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DO Term : immunodeficiency with hyper-IgM type 2 [DOID:0060758] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.
  • synonyms:
  • NCI:C129074,
  • activation-induced cytidine deaminase deficiency,
  • UMLS_CUI:C1720956,
  • HIGM2,
  • AID deficiency,
  • ORDO:101089,
  • 605258,
  • GARD:10578,
  • hyper-IgM syndrome type 2,
  • OMIM:605258
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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