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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 5 multiple types
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Accession:DOID:0110255 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)
Synonyms:exact_synonym: CAM;   CTM;   CTRCT5;   Cataract, Marner Type;   early onset cataract;   lamellar cataract;   perinuclear cataract;   zonular cataract
 primary_id: MESH:C535342
 alt_id: OMIA:001758;   OMIM:116800;   RDO:0000408
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cataract 5 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 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 5 multiple types 1
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 5 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.