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Summary Literature (0)
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: artemis deficiency, SCID, Athabascan type, SCID, Athabaskan type, SCID due to artemis deficiency, SCID due to DCLRE1C deficiency, Severe combined immunodeficiency, Athabascan type, Severe combined immunodeficiency, Athabaskan type, Severe combined immunodeficiency due to artemis deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency

Xenbase Genes : dclre1c

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011225 - severe combined immunodeficiency due to DCLRE1C deficiency

MIM:
MIM:602450 - SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), severe combined immunodeficiency (is_a)