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Summary Literature (0)
DOID:14179 - X-linked agammaglobulinemia


Disease Ontology Definition:An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

Synonyms: BTK deficiency, Bruton agammaglobulinemia tyrosine kinase deficiency, Bruton's Sex-Linked Agammaglobulinemia, Bruton's agammaglobulinaemia, Bruton's type agammaglobulinemia, Bruton-type agammaglobulinemia, X-linked agammaglobulinemia (disorder)

Xenbase Genes : btk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010421 - Bruton-type agammaglobulinemia

OMIM:
OMIM:300755 - AGAMMAGLOBULINEMIA, X-LINKED; XLA

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): agammaglobulinemia (is_a)