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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
 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          cataract 30 2
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        sensory system disease 4970
          eye disease 2388
            lens disease 196
              cataract 189
                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.