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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24