loading...| Preferred Name |
severe combined immunodeficiency with sensitivity to ionizing radiation |
|
| Synonyms |
Severe combined immunodeficiency due to DCLRE1C deficiency |
|
| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0090012 |
|
| database_cross_reference |
MESH:C537589 OMIM:602450 ICD10CM:D81.1 ORDO:275 |
|
| has exact synonym |
Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency, Athabaskan type SCID, Athabaskan type SCID due to artemis deficiency Severe combined immunodeficiency due to artemis deficiency SCID due to DCLRE1C deficiency Severe combined immunodeficiency, Athabascan type SCID, Athabascan type artemis deficiency |
|
| has material basis in | ||
| has_alternative_id |
DOID:0060006 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0090012 |
|
| in_subset | ||
| label |
severe combined immunodeficiency with sensitivity to ionizing radiation |
|
| notation |
DOID:0090012 |
|
| prefLabel |
severe combined immunodeficiency with sensitivity to ionizing radiation |
|
| textual 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. |
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| subClassOf |