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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: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 Pnp purine nucleoside phosphorylase ISO ClinVar Annotator: match by OMIM:613179
ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1384322, PMID:1560016, PMID:3029074, PMID:8931706, PMID:9067751, PMID:9403342, PMID:9737781, PMID:11453975, PMID:12483996, PMID:15571269, PMID:17407325, PMID:19759001, PMID:22132981, PMID:24033266, PMID:24767876, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          purine-pyrimidine metabolic disorder 35
            purine nucleoside phosphorylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                purine nucleoside phosphorylase deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.