retinal arterial tortuosity Disease Ontology Browser

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Disease Ontology Browser

retinal arterial tortuosity (DOID:0111547)
Alliance: disease page
Synonyms: RATOR; retinal arteriolar tortuosity; retinal hemorrhage with vascular tortuosity; tortuosity of retinal arteries
Alt IDs: OMIM:180000, ORDO:75326
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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