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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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
COL4A1-related familial vascular leukoencephalopathy 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: 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, PMID:16107487, PMID:16598045, PMID:17696175, PMID:17938367, PMID:18077766, PMID:19194877, PMID:19477666, PMID:20385946, PMID:20733150, PMID:21527998, PMID:21625620, PMID:22102590, PMID:22522439, PMID:22574627, PMID:23065703, PMID:23225343, PMID:23394911, PMID:24088041, PMID:24628545, PMID:25326635, PMID:25741868, PMID:25741869, PMID:26467025, PMID:26633545, PMID:28017902, PMID:28492532, PMID:30311386, PMID:32042920, PMID:32818659 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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 OMIM
ClinVar
PMID:20818663, PMID:25228067 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Eye Manifestations 4
          Eye Hemorrhage + 2
          Eye Pain 1
          Susac Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            Eye Manifestations 4
              Eye Hemorrhage + 2
              Eye Pain 1
              Susac Syndrome 0
paths to the root

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