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Disease Ontology Browser
immunodeficiency 55 (DOID:0111993)
Alliance: disease page
Synonyms: combined immunodeficiency due to GINS1 deficiency; IMD55
Alt IDs: OMIM:617827, ORDO:505227
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/05/2024
MGI 6.24 		The Jackson Laboratory