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Disease Ontology Browser
purine nucleoside phosphorylase deficiency (DOID:5813)
Alliance: disease page
Synonyms: deficiency of inosine phosphorylase; PNP deficiency; Purine nucleoside phosphorylase deficiency; Purine-Nucleoside Phosphorylase deficiency
Alt IDs: OMIM:613179, ICD10CM:D81.5, MESH:C562587, NCI:C3963, UMLS_CUI:C0268125
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.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/12/2019
MGI 6.14
The Jackson Laboratory