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ONTOLOGY REPORT - ANNOTATIONS


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: Nucleoside Phosphorylase Deficiency;   PNP Deficiency;   deficiency of inosine phosphorylase
 related_synonym: nucleoside phosphorylase polymorphism
 primary_id: MESH:C562587
 alt_id: OMIM:613179;   RDO:0012236
 xref: GARD:4606;   NCI:C3963
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purine nucleoside phosphorylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnp purine nucleoside phosphorylase JBrowse link 15 27,875,883 27,883,566 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      primary immunodeficiency disease 957
        combined T cell and B cell immunodeficiency 67
          purine nucleoside phosphorylase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4659
            autosomal genetic disease 3619
              autosomal recessive disease 2061
                purine nucleoside phosphorylase deficiency 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.