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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:retinal arterial tortuosity
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Accession:DOID:0111547 term browser browse the term
Definition:Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. (OMIM)
Synonyms:exact_synonym: RATOR;   RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY;   retinal arteriolar tortuosity;   tortuosity of retinal arteries
 primary_id: OMIM:180000
 xref: ORDO:75326
For additional species annotation, visit the Alliance of Genome Resources.


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retinal arterial tortuosity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Retinal arteries, tortuosity of OMIM
ClinVar
PMID:20818663 PMID:25228067 PMID:25741868 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        retinal disease 805
          retinal arterial tortuosity 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            Eye Manifestations 4
              Eye Hemorrhage 2
                Retinal Hemorrhage 2
                  retinal arterial tortuosity 1
paths to the root