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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:Ghose Sachdev Kumar Syndrome
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Accession:DOID:9004431 term browser browse the term
Definition:Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma. (MESH)
Synonyms:primary_id: MESH:C537803



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Ghose Sachdev Kumar Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    Ghose Sachdev Kumar Syndrome 0
paths to the root