purine nucleoside phosphorylase deficiency

created [InstanceEdit:9735771] D'Eustachio, Peter, 2021-07-02
databaseName DOID
dbId 9735764
definition A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function.
displayName purine nucleoside phosphorylase deficiency
identifier 5813
modified [InstanceEdit:9735801] D'Eustachio, Peter, 2021-07-02
name
  • purine nucleoside phosphorylase deficiency
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • deficiency of inosine phosphorylase
  • Purine nucleoside phosphorylase deficiency
  • PNP deficiency
  • Purine-Nucleoside Phosphorylase deficiency
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:5813
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