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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:cataract 25
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Accession:DOID:0110254 term browser browse the term
Definition:A cataract that has_material_basis_in variation in the region 15q21-q22. (DO)
Synonyms:exact_synonym: CCSSO;   CTRCT25;   central pouch-like cataract with sutural opacities;   central saccular cataract with sutural opacities;   early-onset cataract with Y-shaped suture opacities
 primary_id: MESH:C565301
 alt_id: OMIM:605728
 xref: ORDO:98985


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          cataract 25 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
              lens disease 456
                cataract 446
                  cataract 25 0
paths to the root