ONTOLOGY REPORT - ANNOTATIONS


Term:CD40 deficiency
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Accession:DOID:0060023 term browser browse the term
Definition:A combined T cell and B cell immunodeficiency that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO)
Synonyms:exact_synonym: hyper-IgM syndrome due to CD40 deficiency;   immunodeficiency with hyper-IgM type 3;   type 3 hyper-IgM immunodeficiency
 primary_id: RDO:9004189
 xref: ORDO:101090
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CD40 deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40 CD40 molecule JBrowse link 3 161,519,789 161,534,943 RGD:8554872
RGD:13592920

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Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      primary immunodeficiency disease 930
        combined T cell and B cell immunodeficiency 68
          CD40 deficiency 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                CD40 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.