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DO Term : immunodeficiency 33 [DOID:0112003] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28.

synonyms:
X-linked MSMD due to IKBKG deficiency,
OMIM:300636,
X-linked MSMD due to NEMO deficiency,
X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency,
300636,
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,
IMD33

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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