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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:pigment dispersion syndrome
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Accession:DOID:0060680 term browser browse the term
Definition:An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO)
Synonyms:exact_synonym: GPDS1;   PDS;   glaucoma-related pigment dispersion syndrome;   pigment-dispersion type glaucoma
 primary_id: MESH:C563184
 alt_id: OMIM:600510;   RDO:0012549
For additional species annotation, visit the Alliance of Genome Resources.


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pigment dispersion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain ISS OMIM:600510 MouseDO NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Gpnmb glycoprotein nmb ISS OMIM:600510 MouseDO NCBI chr 4:78,694,447...78,715,685
Ensembl chr 4:78,694,447...78,715,683
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      pigment dispersion syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        vascular disease 3386
          artery disease 2372
            hypertension 1502
              ocular hypertension 162
                glaucoma 146
                  open-angle glaucoma 67
                    pigment dispersion syndrome 2
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.