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DO Term : immunodeficiency 25 [DOID:0111942] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2.

synonyms:
IMD25,
UMLS_CUI:C1857798,
MESH:C565712,
immunodeficiency due to defect in CD3-zeta,
OMIM:610163,
610163

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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