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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 GINS1 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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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory