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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;   CCA3;   CTRCT4;   PCC;   cataract 4;   cataract 4, multiple types, with or without microcornea;   cataract, punctate, progressive juvenile-onset;   congenital blue dot type cataract, 3;   congenital cataract, cerulean type 3;   nonnuclear polymorphic congenital cataract
 primary_id: MESH:C563819;   MESH:C565131
 alt_id: OMIM:115700;   RDO:0007910;   RDO:0012982;   RDO:0013858
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            cataract 188
              cataract 4 multiple types 1
                Crystalline Aculeiform Cataract 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        sensory system disease 4697
          eye and adnexa disease 2268
            eye disease 2268
              lens disease 195
                cataract 188
                  cataract 4 multiple types 1
                    Crystalline Aculeiform Cataract 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.