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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;   RDO:0015122
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 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          cataract 12 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 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.