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DO Term : immunodeficiency 17 [DOID:0111973] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clinical severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.

synonyms:
immunodeficiency 17, CD3 gamma deficient,
IMD17,
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive,
UMLS_CUI:C3810107,
CD3-gamma deficiency,
OMIM:615607,
615607

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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