| Metadata | |
|---|---|
| ID | 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, https://pubmed.ncbi.nlm.nih.gov/1384322/, https://pubmed.ncbi.nlm.nih.gov/3029074/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:60743005 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
deficiency of inosine phosphorylase [EXACT] PNP deficiency [EXACT] Purine-Nucleoside Phosphorylase deficiency [EXACT] |
| Parent Relationships |