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DO Term : immunodeficiency 62 [DOID:0111991] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.
  • synonyms:
  • UMLS_CUI:C5193109,
  • IMD62,
  • 618459,
  • OMIM:618459
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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