FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked hyper IgM syndrome ID (Ontology) DOID:6620 (Human Disease)
Definition A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.
Also Known As "HIGM1" ; "hyper-IgM immunodeficiency syndrome type 1" ; "hyper-IgM syndrome 1" (for all, see Synonyms field below)
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X-linked monogenic disease
 |__X-linked recessive disease__
hyperimmunoglobulin syndrome    |
 |__hyper IgM syndrome__________|
                                X-linked hyper IgM syndrome
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Is a X-linked recessive disease
hyper IgM syndrome
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Synonyms
  • "HIGM1" EXACT OMO:0003012
    "hyper-IgM immunodeficiency syndrome type 1" EXACT
    "hyper-IgM syndrome 1" EXACT
    "hyper-IgM syndrome type 1" EXACT
    "immunodeficiency with hyper-IgM type 1" EXACT
    "X-linked hyper-IgM immunodeficiency" EXACT
    "XHIM" EXACT OMO:0003012
Secondary IDs
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GARD:73
MESH:D053307
MIM:308230
NCI:C158531
ORDO:101088
SNOMEDCT_US_2023_03_01:403835002
UMLS_CUI:C0398689