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DOID:5813 - purine nucleoside phosphorylase deficiency
Disease 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.
Synonyms: deficiency of inosine phosphorylase, PNP deficiency, Purine nucleoside phosphorylase deficiency, Purine-Nucleoside Phosphorylase deficiency
Xenbase Genes
:
pnp
| MONDO:0013171 - purine nucleoside phosphorylase deficiency |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
combined T cell and B cell immunodeficiency (is_a),
purine-pyrimidine metabolic disorder (is_a)