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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
Alt IDs: OMIM:613179, ICD10CM:D81.5, MESH:C562587, NCI:C176817, ORDO:760, 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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11/12/2024
MGI 6.24 		The Jackson Laboratory