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DO Term : immunodeficiency 15B [DOID:0111959] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.
  • synonyms:
  • UMLS_CUI:C4747743,
  • IMD15B,
  • OMIM:615592,
  • 615592
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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