Term Name: | retinal arterial tortuosity |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111547] ( DOID:0111547 ) |