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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 26 multiple types
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Accession:DOID:0110246 term browser browse the term
Definition:A cataract that has_material_basis_in variation in the region 9q13-q22. (DO)
Synonyms:exact_synonym: CAAR;   CTRCT26;   Cataract, Autosomal Recessive, Early-Onset, Pulverulent
 primary_id: MESH:C565298
 alt_id: OMIM:605749


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          cataract 26 multiple types 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              lens disease 456
                cataract 446
                  cataract 26 multiple types 0
paths to the root