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ONTOLOGY REPORT - ANNOTATIONS


Term:phosphoribosylpyrophosphate synthetase superactivity
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Accession:DOID:0111260 term browser browse the term
Definition:An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (DO)
Synonyms:exact_synonym: PRPP synthetase superactivity;   PRPS1 superactivity;   gout, PRPS-related
 primary_id: MESH:C567064
 alt_id: OMIM:300661;   RDO:0015242
 xref: ORDO:3222
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phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15608
    Nutritional and Metabolic Diseases 4389
      disease of metabolism 4389
        inherited metabolic disorder 1908
          purine-pyrimidine metabolic disorder 34
            phosphoribosylpyrophosphate synthetase superactivity 1
Path 2
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        genetic disease 7294
          monogenic disease 4989
            X-linked monogenic disease 854
              X-linked recessive disease 212
                phosphoribosylpyrophosphate synthetase superactivity 1
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