| Metadata | |
|---|---|
| ID | DOID:0090012 |
| Name | severe combined immunodeficiency with sensitivity to ionizing radiation |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/11336668 |
| Xrefs | |
| Alternateids |
DOID:0060006 |
| Subsets |
DO_rare_slim |
| Synonyms |
artemis deficiency [EXACT] SCID due to artemis deficiency [EXACT] SCID due to DCLRE1C deficiency [EXACT] SCID, Athabascan type [EXACT] SCID, Athabaskan type [EXACT] Severe combined immunodeficiency due to artemis deficiency [EXACT] Severe combined immunodeficiency due to DCLRE1C deficiency [EXACT] Severe combined immunodeficiency, Athabascan type [EXACT] Severe combined immunodeficiency, Athabaskan type [EXACT] |
| Parent Relationships |