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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 23
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Accession:DOID:0110271 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. (DO)
Synonyms:exact_synonym: CATARACT 23, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CTRCT23;   cataract 23, multiple types;   lamellar cataract 23
 primary_id: OMIM:610425
 alt_id: RDO:0009426
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cataract 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:7240710
RGD:8554872

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  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          cataract 23 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              lens disease 195
                cataract 188
                  cataract 23 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.