retinal arterial tortuosity

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col4a1

Other Model Organisms: AGR, 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)