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DO Term : immunodeficiency 30 [DOID:0111990] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.

synonyms:
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency,
MSMD due to complete IL12RB1 deficiency,
614891,
ORDO:319552,
NCI:C176800,
OMIM:614891,
MSMD due to complete interleukin 12 receptor beta 1 deficiency,
UMLS_CUI:C4013949,
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,
IMD30

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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