severe combined immunodeficiency with sensitivity to ionizing radiation Disease Ontology Browser

Disease Ontology Browser

severe combined immunodeficiency with sensitivity to ionizing radiation (DOID:0090012)
Alliance: disease page
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, ICD10CM:D81.1, MESH:C537589, 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)

Allelic Composition	Genetic Background	Reference	Phenotypes
Dclre1ctm2Mcow/Dclre1ctm2Mcow	involves: 129/Sv * C57BL/6	J:96535	View
Dclre1ctm1Jsek/Dclre1ctm1Jsek	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:147864	View

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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