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DO Term : immunodeficiency 53 [DOID:0111992] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.
  • synonyms:
  • IMD53,
  • UMLS_CUI:C4539811,
  • OMIM:617585,
  • 617585
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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