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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 30
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Accession:DOID:0110248 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)
Synonyms:exact_synonym: CATARACT 30, MULTIPLE TYPES;   CTRCT30;   Cataract 30, pulverulent;   Cataract, Nuclear Diffuse Nonprogressive;   Dusty cataract;   cataract Coppock-like
 primary_id: MESH:C566157
 alt_id: OMIM:116300;   RDO:0014596
 xref: ORDO:98984
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cataract 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          cataract 30 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              lens disease 191
                cataract 184
                  cataract 30 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.