Purine-Nucleoside Phosphorylase Deficiency

Preferred Label : Purine-Nucleoside Phosphorylase Deficiency;

NCIt definition : PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency.;

Details

Origin ID

C3963;

UMLS CUI

C0268125;

DO Cross reference
- purine nucleoside phosphorylase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency due to purine nucleoside phosphorylase deficiency [ICD-11 More detail]
- Purine nucleoside phosphorylase [PNP] deficiency [ICD-10 Sub-category]
- Purine nucleoside phosphorylase deficiency [ORDO Disease]
- Purine nucleoside phosphorylase deficiency [OMIM Phenotype]
- Purine nucleoside phosphorylase deficiency [MedDRA Preferred Term]
- Purine-nucleoside phosphorylase deficiency (disorder) [SNOMED CT concept]
- purine nucleoside phosphorylase deficiency [MeSH Supplementary Concept]
- purine nucleoside phosphorylase deficiency [MeSH concept]
- purine nucleoside phosphorylase deficiency [DO Concept]
- purine-nucleoside phosphorylase deficiency [SNOMED Notion]
disease_has_associated_gene
- PNP Gene [NCIt concept]
- PNP wt Allele [NCIt concept]
disease_mapped_to_gene
- PNP Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- PNP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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