OBO ID: DOID:0111547
Term Name: retinal arterial tortuosity Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0111547 )
OTHER retinal arterial tortuosity PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL4A1 ?Retinal arteries, tortuosity of 180000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None