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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 7
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Accession:DOID:0110260 term browser browse the term
Definition:A cataract that has_material_basis_in variation in the region 17q24. (DO)
Synonyms:exact_synonym: CATARACT 7, CERULEAN TYPE;   CCA1;   CTRCT7;   Cataract, congenital, blue dot type 1;   Cataract, congenital, cerulean type 1;   Cerulean Cataract
 primary_id: MESH:C537955
 alt_id: OMIM:115660;   RDO:0003879
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cataract 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:11554173
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:1601016

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          cataract 7 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          eye disease 2385
            lens disease 196
              cataract 189
                cataract 7 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.