severe combined immunodeficiency with sensitivity to ionizing radiation

Summary

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, artemis deficiency,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dclre1c

OMIM:

MIM:602450 - severe combined immunodeficiency with sensitivity to ionizing radiation

MIM:602450 - severe combined immunodeficiency with sensitivity to ionizing radiation

Other Model Organisms: AGR, 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)