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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 32 multiple types
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Accession:DOID:0110227 term browser browse the term
Definition:A cataract that has_material_basis_in mutation in the region 14q22-q23. (DO)
Synonyms:exact_synonym: CAP;   CTAA1;   CTPP5;   CTRCT32;   anterior polar cataract;   anterior polar cataract 1;   anterior polar cataract 5;   anterior polar cataract, dominant
 narrow_synonym: posterior polar cataract 5
 primary_id: MESH:C538282
 alt_id: OMIM:115650


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        lens disease 456
          cataract 446
            cataract 32 multiple types 0
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              lens disease 456
                cataract 446
                  cataract 32 multiple types 0
paths to the root