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Term:cataract 1 multiple types
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Accession:DOID:0110231 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)
Synonyms:exact_synonym: CAE1;   CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CTRCT1;   CZP;   CZP1;   Cataract, Duffy-Linked;   Cataract, Zonular Pulverulent 1;   Pulverulent Zonular Cataract
 primary_id: MESH:C566158
 alt_id: OMIM:116200;   RDO:0014597
For additional species annotation, visit the Alliance of Genome Resources.

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cataract 1 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:7240710
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186

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Path 1
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          cataract 1 multiple types 4
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              lens disease 189
                cataract 182
                  cataract 1 multiple types 4
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