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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:Eye Hemorrhage
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Accession:DOID:9004938 term browser browse the term
Definition:Intraocular hemorrhage from the vessels of various tissues of the eye.
Synonyms:exact_synonym: Eye Hemorrhages;   Hemophthalmos
 primary_id: MESH:D005130;   RDO:0005212
For additional species annotation, visit the Alliance of Genome Resources.



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 OMIM:607595
ClinVar Annotator: match by term: Autosomal Dominant Type 1 Porencephaly
ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage
ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies
ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
ClinVar Annotator: match by term: Porencephaly 1
ClinVar
OMIM
PMID:6428250 PMID:7257746 PMID:15023374 PMID:15136694 PMID:15905400 More... NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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 chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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 arteries, tortuosity of
ClinVar Annotator: match by term: RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY
OMIM
ClinVar
PMID:20818663 PMID:25228067 PMID:25741868 PMID:28492532 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        Eye Hemorrhage 2
          Choroid Hemorrhage 0
          Hyphema 0
          Retinal Hemorrhage + 2
          Vitreous Hemorrhage 0
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            Eye Manifestations 4
              Eye Hemorrhage 2
                Choroid Hemorrhage 0
                Hyphema 0
                Retinal Hemorrhage + 2
                Vitreous Hemorrhage 0
paths to the root