purine nucleoside phosphorylase deficiency
(Q3043155)
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
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
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Current Data About
purine nucleoside phosphorylase deficiency
| (P31) |
(Q929833)
(Q112193867) |
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| (P279) |
(Q5150906)
(Q200779)
(Q10267817)
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| (P1748) |
C3963
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| (P2293) |
(Q7261255)
|
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_5813
http://identifiers.org/doid/DOID:5813
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| (P5008) |
(Q4099686)
|
other details
| aliases |
PNP deficiency Purine-Nucleoside Phosphorylase deficiency deficiency of inosine phosphorylase Purine nucleoside phosphorylase deficiency |
| description | 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 |
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