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Disease Ontology Browser
Bruton-type agammaglobulinemia (DOID:14179)
Synonyms: Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's agammaglobulinaemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; BTK deficiency; X-linked agammaglobulinemia (disorder)
Alt IDs: OMIM:300310, OMIM:300755, MESH:C537409, NCI:C3822, ORDO:47, UMLS_CUI:C0221026
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.

Disease References using Mouse Models (8)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory