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Disease Ontology Browser
severe combined immunodeficiency 124 (DOID:0061090)
Alliance: disease page
Alt IDs: OMIM:611291
Definition: A severe combined immunodeficiency that is characterized by the onset of recurrent infections in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the NHEJ1 gene on chromosome 2q35.

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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03/18/2025
MGI 6.24 		The Jackson Laboratory