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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
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cataract 5 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl8 F-box and leucine-rich repeat protein 8 JBrowse link 19 37,216,696 37,225,701 RGD:8554872
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 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          cataract 5 multiple types 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 5 multiple types 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.