BabelNet

bn:00208358n

Noun Concept

Categories: Inborn errors of purine-pyrimidine metabolism, Rare diseases, Autosomal recessive disorders, Noninfectious immunodeficiency-related cutaneous conditions, Combined T and B–cell immunodeﬁciencies

purine nucleoside phosphorylase deficiency deficiency of inosine phosphorylase PNP deficiency Purine-Nucleoside Phosphorylase deficiency

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. Wikipedia

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Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. Wikipedia

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 Wikidata

IS A

rare disease

genetic disease

combined immunodeficiencies

autosomal recessive disease

GENETIC ASSOCIATION

purine nucleoside phosphorylase

Wikipedia

purine nucleoside phosphorylase deficiency

Wikidata

purine nucleoside phosphorylase deficiency

Wikidata Alias

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