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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 4 multiple types
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Accession:DOID:0110234 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)
Synonyms:exact_synonym: CACA;   CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL;   CCA3;   CTRCT4;   Cataract, Congenital Blue Dot Type, 3;   Cataract, Congenital, Cerulean Type, 3;   PCC;   cataract 4, multiple types, with or without microcornea;   cataract, punctate, progressive juvenile-onset
 primary_id: MESH:C563819;   MESH:C565131
 alt_id: DOID:9008123;   OMIM:115700;   RDO:0007910;   RDO:0012982;   RDO:0013858
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 4 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:7240710
RGD:8554872
Crystalline Aculeiform Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:8554872

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          cataract 4 multiple types 1
            Crystalline Aculeiform Cataract 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 4 multiple types 1
                    Crystalline Aculeiform Cataract 1
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