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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: MIM:600510
 xref: MONDO:0010896


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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 chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Gpnmb glycoprotein nmb ISS OMIM:600510 MouseDO NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      pigment dispersion syndrome 2
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              ocular hypertension 187
                glaucoma 171
                  open-angle glaucoma 80
                    pigment dispersion syndrome 2
paths to the root