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DO Term : immunodeficiency 7 [DOID:0111977] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.

synonyms:
TCR-alpha-beta-positive T-cell deficiency,
immunodeficiency 7, TCR-alpha/beta deficient,
IMD7,
OMIM:615387,
615387,
ORDO:397959,
UMLS_CUI:C3809332

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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