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Disease Ontology Browser
severe combined immunodeficiency with sensitivity to ionizing radiation (DOID:0090012)
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Synonyms: artemis deficiency; SCID due to artemis deficiency; SCID due to DCLRE1C deficiency; SCID, Athabascan type; SCID, Athabaskan type; Severe combined immunodeficiency due to artemis deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type
Alt IDs: OMIM:602450, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, DOID:0060006, ICD10CM:D81.1, ORDO:275
Definition: A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13.

Disease References using Mouse Models (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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory