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DO Term : purine nucleoside phosphorylase deficiency [DOID:5813] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:613179,
  • deficiency of inosine phosphorylase,
  • MESH:C562587,
  • ORDO:760,
  • SNOMEDCT_US_2023_03_01:60743005,
  • Purine-Nucleoside Phosphorylase deficiency,
  • GARD:4606,
  • UMLS_CUI:C0268125,
  • 613179,
  • NCI:C176817,
  • PNP deficiency,
  • ICD10CM:D81.5
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