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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 disease, Bruton's Sex-Linked Agammaglobulinemia, Bruton's agammaglobulinaemia, Bruton's type agammaglobulinemia, Bruton-type agammaglobulinemia, X-linked agammaglobulinemia (disorder),
Xenbase Genes
:
btk
| MONDO:0010421 - Bruton-type agammaglobulinemia |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
agammaglobulinemia (is_a)