|OBO ID: DOID:5813|
|Term Name:||purine nucleoside phosphorylase deficiency||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:5813)|
|is a type of:||
OTHER purine nucleoside phosphorylase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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