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Summary Literature (0)
DOID:0111993 - immunodeficiency 55

Disease Ontology Definition:A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.

Synonyms: IMD55, combined immunodeficiency due to GINS1 deficiency,

Xenbase Genes : gins1



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), combined immunodeficiency (is_a)