| Metadata | |
|---|---|
| ID | DOID:14179 |
| Name | X-linked agammaglobulinemia |
| 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. http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm |
| Xrefs |
SNOMEDCT_US_2023_03_01:65880007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Bruton agammaglobulinemia tyrosine kinase deficiency [EXACT] Bruton disease [EXACT] Bruton's agammaglobulinaemia [EXACT] Bruton's Sex-Linked Agammaglobulinemia [EXACT] Bruton's type agammaglobulinemia [EXACT] Bruton-type agammaglobulinemia [EXACT] BTK deficiency [EXACT] |
| Parent Relationships |
is_a agammaglobulinemia |