DOID:0090012 - severe combined immunodeficiency with sensitivity to ionizing radiation
Disease Ontology 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.
Synonyms: SCID due to DCLRE1C deficiency, SCID due to artemis deficiency, SCID, Athabascan type, SCID, Athabaskan type, Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to artemis deficiency, Severe combined immunodeficiency, Athabascan type, Severe combined immunodeficiency, Athabaskan type
|OMIM:602450 - SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : dclre1c
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): severe combined immunodeficiency (is_a)