JSON

Bruton-type agammaglobulinemia

^ http://purl.obolibrary.org/obo/DOID_14179


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. [ url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300755 url:http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia url:http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300300 url:http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm url:http://www.ncbi.nlm.nih.gov/gene/695? ]

Synonyms: Bruton's type agammaglobulinemia, Bruton agammaglobulinemia tyrosine kinase deficiency, BTK deficiency, X-linked agammaglobulinemia, Bruton's Sex-Linked Agammaglobulinemia, Bruton's agammaglobulinaemia

Term info

database cross reference
  • ORDO:47
  • SNOMEDCT_US_2018_03_01:65880007
  • OMIM:300310
  • OMIM:300755
  • MTHICD9_2006:279.04
  • SNOMEDCT_US_2018_03_01:116133005
  • SNOMEDCT_US_2018_03_01:190983003
  • UMLS_CUI:C0221026
  • NCI:C3822
  • MESH:C537409
  • NCI2004_11_17:C3822
Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:14179