Congenital Hereditary Endothelial Dystrophy Of Cornea
Disease ID: disease_node_17120
Connections displayed (default: 10).
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| Dbxref | MIM:217700 |
|---|---|
| Subclassof | DOID_0080015, DOID_0050737, DOID_0060443 |
| Data Source | DOID |
| Synonyms | CHED |
| Doid Label | congenital hereditary endothelial dystrophy of cornea |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17120 |
| Doid Id | DOID_0060649 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Hereditary Endothelial Dystrophy Of Cornea |
- Outgoing r'ship
SUBCLASS_OFto/from Corneal Endothelial Dystrophy(ID:disease_node_17119) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease)