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DOID:14179 - Bruton-type agammaglobulinemia
Disease Ontology Definition:A B cell deficiency 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, X-linked agammaglobulinemia (disorder),
Echinobase Genes :
MIM: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)