Retinal Arterial Tortuosity
Disease ID: disease_node_20184
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| Dbxref | MIM:180000, ORDO:75326 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050828 |
| Data Source | DOID |
| Synonyms | RATOR, retinal arteriolar tortuosity, retinal hemorrhage with vascular tortuosity, tortuosity of retinal arteries |
| Doid Label | retinal arterial tortuosity |
| Doid Description | An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20184 |
| Doid Id | DOID_0111547 |
| Label | Retinal Arterial Tortuosity |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Artery Disease(ID:disease_node_13138) (Disease)