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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 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          cataract 26 multiple types 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            eye disease 3325
              lens disease 416
                cataract 406
                  cataract 26 multiple types 0
paths to the root