FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 51 ID (Ontology) DOID:0111996 (Human Disease)
Definition A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
Also Known As "CANDF5" ; "familial candidiasis 5" ; "IMD51"
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 51
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "CANDF5" EXACT OMO:0003012
    "familial candidiasis 5" EXACT
    "IMD51" EXACT OMO:0003012
Secondary IDs
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MIM:613953