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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 16 multiple types
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Accession:DOID:0110250 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)
Synonyms:exact_synonym: CATARACT, CONGENITAL LAMELLAR;   CTRCT16
 narrow_synonym: CTPP2;   posterior polar cataract 2
 primary_id: MESH:C565134;   OMIM:613763;   RDO:0013861
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cataract 16 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872

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  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          cataract 16 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 16 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.