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DO Term : X-linked hyper IgM syndrome [DOID:6620] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
SNOMEDCT_US_2023_03_01:403835002,
NCI:C158531,
hyper-IgM syndrome 1,
MESH:D053307,
XHIM,
hyper-IgM syndrome type 1,
HIGM1,
GARD:73,
immunodeficiency with hyper-IgM type 1,
hyper-IgM immunodeficiency syndrome type 1,
X-linked hyper-IgM immunodeficiency,
ORDO:101088,
OMIM:308230,
308230,
UMLS_CUI:C0398689

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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