FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital hereditary endothelial dystrophy of cornea ID (Ontology) DOID:0060649 (Human Disease)
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.
Also Known As "CHED"
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 Genes
 congenital hereditary endothelial dystrophy of cornea       2
 for disease ribbon | congenital hereditary endothelial dystrophy of cornea       2
 model of | congenital hereditary endothelial dystrophy of cornea       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
corneal dystrophy                  |
 |__corneal endothelial dystrophy__|
disease                            |
 |__physical disorder______________|
                                   congenital hereditary endothelial dystrophy of cornea  2 rec.
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Is a autosomal recessive disease
corneal endothelial dystrophy
physical disorder
Part of
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Synonyms
  • "CHED" EXACT OMO:0003012
Secondary IDs
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MIM:217700