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DO Term : severe combined immunodeficiency with sensitivity to ionizing radiation [DOID:0090012] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • SCID, Athabaskan type,
  • Severe combined immunodeficiency, Athabaskan type,
  • SCID due to artemis deficiency,
  • ORDO:275,
  • OMIM:602450,
  • SCID due to DCLRE1C deficiency,
  • 602450,
  • Severe combined immunodeficiency due to artemis deficiency,
  • Severe combined immunodeficiency due to DCLRE1C deficiency,
  • DOID:0060006,
  • SCID, Athabascan type,
  • artemis deficiency,
  • ICD10CM:D81.1,
  • MESH:C537589,
  • Severe combined immunodeficiency, Athabascan type
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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