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DO Term : immunodeficiency with hyper IgM type 3 [DOID:0060023] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hyper IgM syndrome 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.
  • synonyms:
  • UMLS_CUI:C1720957,
  • ORDO:101090,
  • GARD:10579,
  • 606843,
  • HIGM3,
  • hyper-IgM syndrome due to CD40 deficiency,
  • CD40 deficiency,
  • NCI:C176416,
  • type 3 hyper-IgM immunodeficiency,
  • OMIM:606843
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents