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

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          cataract 7 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          eye and adnexa disease 1996
            eye disease 1996
              lens disease 191
                cataract 184
                  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.