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DO Term : severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive [DOID:0090014] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
  • synonyms:
  • ORDO:169154,
  • DOID:0060015,
  • interleukin-7 receptor alpha deficiency,
  • 608971,
  • autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID,
  • OMIM:608971,
  • MESH:C563822,
  • severe combined immunodeficiency 104,
  • ICD10CM:D81.2
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