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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 18970
    syndrome 10900
      Ghose Sachdev Kumar Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        Neurologic Manifestations 10113
          sensory system disease 7035
            eye disease 3497
              eye degenerative disease 858
                retinal degeneration 856
                  fundus dystrophy 705
                    Ghose Sachdev Kumar Syndrome 0
paths to the root