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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 27
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Accession:DOID:0110233 term browser browse the term
Definition:A cataract that has_material_basis_in mutation in the region 2p12. (DO)
Synonyms:exact_synonym: CCNP;   CTRCT27;   Cataract, Congenital, Nuclear Progressive;   Cataract, Nuclear Progressive;   cataract 27 nuclear progressive
 primary_id: MESH:C564596;   RDO:0013501
 alt_id: OMIM:607304
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cataract 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552277

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          cataract 27 2
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          eye disease 2390
            lens disease 196
              cataract 189
                cataract 27 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.