FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 42 ID (Ontology) DOID:0111940 (Human Disease)
Definition A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3.
Also Known As "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" ; "autosomal recessive MSMD due to complete RORgamma receptor defiency" ; "autosomal recessive primary immunodeficiency due to RORC mutation" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 42       1
 for disease ribbon | immunodeficiency 42       1
 model of | immunodeficiency 42       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 42  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" EXACT
    "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT
    "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT
    "IMD42" EXACT OMO:0003012
Secondary IDs
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MIM:616622
ORDO:477857