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| Term | purine nucleoside phosphorylase deficiency | ID (Ontology) | DOID:5813 (Human Disease) |
| 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. | ||
| Also Known As | "deficiency of inosine phosphorylase" ; "PNP deficiency" ; "Purine-Nucleoside Phosphorylase deficiency" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| purine nucleoside phosphorylase deficiency 2 rec. |
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| Is a |
autosomal recessive disease combined T cell and B cell immunodeficiency |
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GARD:4606 ICD10CM:D81.5 MESH:C562587 MIM:613179 NCI:C176817 ORDO:760 SNOMEDCT_US_2023_03_01:60743005 UMLS_CUI:C0268125 |
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