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Disease Ontology Browser
immunodeficiency 24 (DOID:0111938)
Alliance: disease page
Synonyms: IMD24; SCID due to CTPS1 deficiency; severe combined immunodeficiency due to CTPS1 deficiency
Alt IDs: OMIM:615897, ORDO:420573, UMLS_CUI:C4014617
Definition: A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory