OBO ID: DOID:14179
Term Name: X-linked agammaglobulinemia Search Ontology:
Synonyms:
  • Bruton agammaglobulinemia tyrosine kinase deficiency
  • Bruton disease
  • Bruton's agammaglobulinaemia
  • Bruton's Sex-Linked Agammaglobulinemia
  • Bruton's type agammaglobulinemia
  • Bruton-type agammaglobulinemia
  • BTK deficiency
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. (2)
References:
Ontology: Human Disease   ( DOID:14179 )
Relationships
is a type of:
OTHER X-linked agammaglobulinemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BTK Agammaglobulinemia, X-linked 1 300755
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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