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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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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          cataract 12 multiple types 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              lens disease 189
                cataract 182
                  cataract 12 multiple types 1
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