Search Ontology:
Human Disease

phosphoribosylpyrophosphate synthetase superactivity

Term ID
DOID:0111260
Synonyms
  • PRPP synthetase superactivity
  • PRPS1 superactivity
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. (2)
References
Ontology
Human Disease   ( DOID:0111260 )
Relationships
is a type of
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Genes Involved
Zebrafish Models