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Summary Literature (0)
DOID:0111977 - immunodeficiency 7

Disease Ontology Definition: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: IMD7, immunodeficiency 7, TCR-alpha/beta deficient, TCR-alpha-beta-positive T-cell deficiency

Xenbase Genes : trac



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), T cell deficiency (is_a)