MSMD due to complete IL12B deficiencyMendelian susceptibility to mycobacterial diseases due to complete IL12B deficiencyIMD29Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiencyIL12B deficiencyimmunodeficiency 29, mycobacteriosisMSMD due to complete interleukin 12B deficiency
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3.