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Summary Literature (0)
DOID:0111943 - immunodeficiency 48

Disease Ontology Definition:A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2.

Synonyms: IMD48, combined immunodeficiency due to ZAP70 deficiency, zeta-associated-protein 70 deficiency,

Xenbase Genes : zap70


OMIM:
OMIM:269840 - IMMUNODEFICIENCY 48; IMD48

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

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