immunodeficiency 25

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Summary

Literature (0)

DOID:0111942 - immunodeficiency 25

Disease Ontology Definition: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, immunodeficiency due to defect in CD3-zeta,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cd247

Other Model Organisms: Alliance, 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)