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Metadata
ID DOID:6620
Name X-linked hyper IgM syndrome
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.
https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome
Xrefs

GARD:73

MESH:D053307

NCI:C158531

OMIM:308230

ORDO:101088

SNOMEDCT_US_2023_03_01:403835002

UMLS_CUI:C0398689

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

HIGM1 [EXACT]

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]

Parent Relationships

is_a hyper IgM syndrome

is_a X-linked recessive disease

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