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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 Hemorrhage
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Accession:DOID:9000062 term browser browse the term
Definition:Bleeding from the vessels of the retina.
Synonyms:exact_synonym: Retinal Hemorrhages
 primary_id: MESH:D012166


show annotations for term's descendants           Sort by:
brain small vessel disease 1 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: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage		 ClinVar
OMIM		 PMID:906807 PMID:2211826 PMID:3691802 PMID:6428250 PMID:7257746 More... NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825 		JBrowse link
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 arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of OMIM
ClinVar		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Retinal arterial tortuosity ClinVar PMID:25741868 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    sensory system disease 6589
      eye disease 3365
        retinal disease 1183
          Retinal Hemorrhage 3
            Frenkel Russe Syndrome 0
            brain small vessel disease 1 3
            retinal arterial tortuosity 2
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            eye disease 3365
              Eye Manifestations 7
                Eye Hemorrhage 3
                  Retinal Hemorrhage 3
                    Frenkel Russe Syndrome 0
                    brain small vessel disease 1 3
                    retinal arterial tortuosity 2
paths to the root