ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 33
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Accession:DOID:0110264 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)
Synonyms:exact_synonym: CATARACT 33, MULTIPLE TYPES;   CTRCT33;   cortical cataract 33
 related_synonym: cortical cataract, juvenile-onset
 primary_id: MESH:C566955
 alt_id: OMIM:611391;   RDO:0015158
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cataract 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:7240710
RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:734947

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          cataract 33 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          eye and adnexa disease 1996
            eye disease 1996
              lens disease 191
                cataract 184
                  cataract 33 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.