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ONTOLOGY REPORT - ANNOTATIONS


Term:cataract 38
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Accession:DOID:0110245 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. (DO)
Synonyms:exact_synonym: AGK-related disorder;   AGK-related disorders;   CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5;   CATC5;   CTRCT38
 primary_id: OMIM:614691
 alt_id: RDO:9000217
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cataract 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872

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  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          cataract 38 1
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Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              lens disease 195
                cataract 188
                  cataract 38 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.