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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
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          cataract 38 2
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        sensory system disease 4970
          eye disease 2388
            lens disease 196
              cataract 189
                cataract 38 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.