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DO Term : retinal arterial tortuosity [DOID:0111547] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:180000,
  • retinal arteriolar tortuosity,
  • retinal hemorrhage with vascular tortuosity,
  • 180000,
  • RATOR,
  • ORDO:75326,
  • tortuosity of retinal arteries
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