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Metadata
DOID DOID:5813
Name purine nucleoside phosphorylase deficiency
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.
http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency
Synonyms

deficiency of inosine phosphorylase [EXACT]

PNP deficiency [EXACT]

Purine nucleoside phosphorylase deficiency [EXACT]

Purine-Nucleoside Phosphorylase deficiency [EXACT]

Xrefs

ICD10CM:D81.5

MESH:C562587

NCI2004_11_17:C3963

NCI:C3963

OMIM:613179

SNOMEDCT_US_2018_03_01:124271005

SNOMEDCT_US_2018_03_01:191000008

SNOMEDCT_US_2018_03_01:60743005

UMLS_CUI:C0268125

Relationships

is_a combined T cell and B cell immunodeficiency

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