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ONTOLOGY REPORT - ANNOTATIONS


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
RGD:8554872
RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186

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Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          cataract 1 multiple types 4
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              lens disease 194
                cataract 187
                  cataract 1 multiple types 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.