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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 3 multiple types
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Accession:DOID:0110269 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)
Synonyms:exact_synonym: CTRCT3;   Cataract, Congenital, Blue Dot Type, 2;   cataract 3 multiple types with or without microcornea
 narrow_synonym: CCA2;   congenital Cerulean type cataract 2
 primary_id: MESH:C563294;   OMIM:601547;   RDO:0008824
 alt_id: RDO:0012598
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cataract 3 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          cataract 3 multiple types 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              lens disease 194
                cataract 187
                  cataract 3 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.