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Summary Literature (0)
DOID:0111967 - immunodeficiency 54

Disease Ontology Definition:An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.

Synonyms: IMD54, NKCD, familial isolated natural killer cell deficiency, primary immunodeficiency due to MCM4 deficiency, primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,

Xenbase Genes : mcm4



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

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