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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 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          purine-pyrimidine metabolic disorder 35
            purine nucleoside phosphorylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                purine nucleoside phosphorylase deficiency 1
paths to the root