ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 41
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Accession:DOID:0110241 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: CTRCT41;   Cataract 41, Congenital Nuclear Type;   Cataract, Nuclear Total
 primary_id: MESH:C566156
 alt_id: OMIM:116400;   RDO:0014595
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cataract 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          cataract 41 1
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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 41 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.