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retinal arterial tortuosity
Summary
- Synonym
-
- RATOR
- retinal arteriolar tortuosity
- retinal hemorrhage with vascular tortuosity
- tortuosity of retinal arteries
- Definition
- 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.
- Super Class
- artery disease autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111547
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
