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X-linked Mendelian susceptibility to mycobacterial diseases

^ http://purl.obolibrary.org/obo/MONDO_0017905

A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. [ https://orcid.org/0000-0001-5208-3432 Orphanet:319605 ]

Term info

database cross reference
  • UMLS:CN203967 (MONDO:equivalentTo)
  • SCTID:719814009 (MONDO:equivalentTo)
  • Orphanet:319605 (MONDO:equivalentTo)
  • UMLS:C4304413 (MONDO:equivalentTo)
Subsets

ordo_disease, predisposition

definition

A rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_319605, http://linkedlifedata.com/resource/umls/id/CN203967, http://linkedlifedata.com/resource/umls/id/C4304413, http://identifiers.org/snomedct/719814009

has exact synonym

X-linked MSMD, mendelian susceptibility to mycobacterial diseases, X-linked

id

MONDO:0017905