Summary Literature (0)

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: PNP deficiency, Purine nucleoside phosphorylase deficiency, Purine-Nucleoside Phosphorylase deficiency, deficiency of inosine phosphorylase,

Echinobase Genes :


OMIM:

MIM:613179 - purine nucleoside phosphorylase deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee