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DO Term : immunodeficiency 10 [DOID:0111970] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.

synonyms:
OMIM:612783,
combined immunodeficiency due to STIM1 deficiency,
UMLS_CUI:C2748557,
STIM1 deficiency,
MESH:C557827,
612783,
immune dysfunction with T-cell inactivation due to calcium entry defect 2,
CID due to STIM1 deficiency,
IMD10,
ORDO:317430

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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