FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term immunodeficiency 29 ID (Ontology) DOID:0111950 (Human Disease)
Definition 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 the IL12B gene on chromosome 5q33.3.
Also Known As "IL12B deficiency" ; "IMD29" ; "immunodeficiency 29, mycobacteriosis" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 29
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
primary immunodeficiency disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "IL12B deficiency" EXACT
    "IMD29" EXACT OMO:0003012
    "immunodeficiency 29, mycobacteriosis" EXACT
    "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" EXACT
    "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT
    "MSMD due to complete IL12B deficiency" EXACT
    "MSMD due to complete interleukin 12B deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:614890
ORDO:319558