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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 31 multiple types
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Accession:DOID:0110265 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. (DO)
Synonyms:exact_synonym: CPP3;   CTPP3;   CTRCT31;   posterior polar cataract 3
 primary_id: MESH:C535343
 alt_id: OMIM:605387
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cataract 31 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp4b charged multivesicular body protein 4B JBrowse link 3 150,188,275 150,227,453 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          cataract 31 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          eye disease 2390
            lens disease 196
              cataract 189
                cataract 31 multiple types 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.