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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 6 multiple types
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Accession:DOID:0110229 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: ARCC2;   CTPP1;   CTRCT6;   age-cortical cataract 2;   age-related cortical cataract 2;   age-related cortical cataract 6;   posterior polar cataract 1
 broad_synonym: age-related cortical cataract
 primary_id: MESH:C535339
 alt_id: DOID:9005615;   OMIM:116600;   RDO:0000405;   RDO:0012049;   RDO:0015814
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 6 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:7240710
RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            cataract 182
              cataract 6 multiple types 1
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 6 multiple types 1
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