OBO ID: DOID:5813 |
Term Name: | purine nucleoside phosphorylase deficiency | Search Ontology: | |
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Synonyms: |
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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. (3) | ||
References: |
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Ontology: | Human Disease ( DOID:5813 ) |
OTHER purine nucleoside phosphorylase deficiency PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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PNP | Immunodeficiency due to purine nucleoside phosphorylase deficiency |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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