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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 12 multiple types
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Accession:DOID:0110239 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)
Synonyms:exact_synonym: CTRCT12;   Cataract, Autosomal Dominant, Multiple Types 1
 primary_id: MESH:C566909
 alt_id: OMIM:611597
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 12 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 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 12 multiple types 1
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 12 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.