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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: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. (DO)
Synonyms:exact_synonym: RATOR;   RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY;   retinal arteriolar tortuosity;   tortuosity of retinal arteries
 primary_id: OMIM:180000
 xref: ORDO:75326


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of		 CTD
OMIM
ClinVar		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Retinal arterial tortuosity ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        retinal disease 1224
          retinal arterial tortuosity 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              Eye Manifestations 7
                Eye Hemorrhage 3
                  Retinal Hemorrhage 3
                    retinal arterial tortuosity 2
paths to the root