OBO ID: DOID:0090012
Term Name: severe combined immunodeficiency with sensitivity to ionizing radiation Search Ontology:
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
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
References:
Ontology: Human Disease   (DOID:0090012)
OTHER severe combined immunodeficiency with sensitivity to ionizing radiation PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DCLRE1C Severe combined immunodeficiency, Athabascan type 602450
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None