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Summary Literature (0)
DOID:0111547 - retinal arterial tortuosity

Disease Ontology 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.

Synonyms: RATOR, retinal arteriolar tortuosity, retinal hemorrhage with vascular tortuosity, tortuosity of retinal arteries

Xenbase Genes : col4a1


MIM:
MIM:180000 - RETINAL ARTERIES, TORTUOSITY OF; RATOR

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): artery disease (is_a), autosomal dominant disease (is_a)