Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 OMIM NCBI chr11:76,858,332...76,997,409 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    sensory system disease 4728
      eye disease 2437
        retinal disease 737
          retinal arterial tortuosity 1
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12151
      nervous system disease 9903
        sensory system disease 4728
          eye disease 2437
            Eye Manifestations 4
              Eye Hemorrhage 2
                Retinal Hemorrhage 2
                  retinal arterial tortuosity 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.