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 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          cataract 23 1
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  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 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.