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DO Term : immunodeficiency with hyper IgM type 5 [DOID:0060759] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.
  • synonyms:
  • hyper-IgM syndrome 5,
  • ORDO:101092,
  • UMLS_CUI:C1720958,
  • OMIM:608106,
  • hyper-IgM syndrome due to uracil N-glycosylase,
  • GARD:10581,
  • 608106,
  • hyper-IgM syndrome due to UNG deficiency,
  • HIGM5
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Ontology Term --> Direct parents