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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:purine nucleoside phosphorylase deficiency
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Accession:DOID:5813 term browser browse the term
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. (DO)
Synonyms:exact_synonym: PNP deficiency;   deficiency of inosine phosphorylase;   nucleoside phosphorylase deficiency
 related_synonym: nucleoside phosphorylase polymorphism
 primary_id: MESH:C562587
 alt_id: OMIM:613179
 xref: GARD:4606;   ICD10CM:D81.5;   NCI:C176817;   NCI:C3963;   ORDO:760
For additional species annotation, visit the Alliance of Genome Resources.


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purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:28492532 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:28492532 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Pip4p1 phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency ClinVar PMID:28492532 NCBI chr15:24,146,854...24,150,739
Ensembl chr15:24,146,856...24,150,702 		JBrowse link
G Pnp purine nucleoside phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency		 OMIM
CTD
ClinVar		 PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 More... NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4645
          purine-pyrimidine metabolic disorder 68
            purine nucleoside phosphorylase deficiency 4
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                purine nucleoside phosphorylase deficiency 4
paths to the root