| 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 | |
| Synonyms |
CHED [EXACT] |
| Parent Relationships |
is_a corneal endothelial dystrophy is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |