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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 Manifestations
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Accession:DOID:9001020 term browser browse the term
Definition:Ocular disorders attendant upon non-ocular disease or injury.
Synonyms:exact_synonym: Eye Manifestation
 primary_id: MESH:D005132;   RDO:0005557
For additional species annotation, visit the Alliance of Genome Resources.



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Eye Manifestations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO associated with Behcet Syndrome;protein:increased expression:serum (human) RGD PMID:9152064 RGD:8549789 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
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
Eye Pain term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4327920 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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 HEMORRHAGE WITH VASCULAR TORTUOSITY
ClinVar Annotator: match by term: Retinal arteries, tortuosity of
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 Manifestations 4
          Eye Hemorrhage + 2
          Eye Pain 1
          Susac Syndrome 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
              Eye Pain 1
              Susac Syndrome 0
paths to the root