General Information of Disease (ID: DISJ2TZZ)

Disease Name X-linked Mendelian susceptibility to mycobacterial diseases
Synonyms X-linked MSMD; mendelian susceptibility to mycobacterial diseases, X-linked
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.
Disease Hierarchy
DIS33M7J: Inherited susceptibility to mycobacterial diseases
DISJ2TZZ: X-linked Mendelian susceptibility to mycobacterial diseases
Disease Identifiers
MONDO ID
MONDO_0017905
UMLS CUI
C4304413
MedGen ID
930082
Orphanet ID
319605
SNOMED CT ID
719814009