FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinal arterial tortuosity ID (Ontology) DOID:0111547 (Human Disease)
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.
Also Known As "RATOR" ; "retinal arteriolar tortuosity" ; "retinal hemorrhage with vascular tortuosity" (for all, see Synonyms field below)
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 Genes
 retinal arterial tortuosity       2
 for disease ribbon | retinal arterial tortuosity       2
 model of | retinal arterial tortuosity       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
vascular disease                |
 |__artery disease______________|
                                retinal arterial tortuosity  2 rec.
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Is a autosomal dominant disease
artery disease
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Synonyms
  • "RATOR" EXACT OMO:0003012
    "retinal arteriolar tortuosity" EXACT
    "retinal hemorrhage with vascular tortuosity" EXACT
    "tortuosity of retinal arteries" EXACT
Secondary IDs
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MIM:180000
ORDO:75326