OBO ID: DOID:5813
Term Name: purine nucleoside phosphorylase deficiency Search Ontology:
Synonyms:
  • deficiency of inosine phosphorylase
  • PNP deficiency
  • Purine-Nucleoside Phosphorylase deficiency
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. (3)
References:
  • GARD:4606
  • ICD10CM:D81.5
  • MESH:C562587
  • NCI:C176817
  • OMIM:613179
  • ORDO:760
  • SNOMEDCT_US_2022_03_01:60743005
  • UMLS_CUI:C0268125
Ontology: Human Disease   (DOID:5813)
OTHER purine nucleoside phosphorylase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None