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DO Term : immunodeficiency 19 [DOID:0111972] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
  • synonyms:
  • 615617,
  • CD3-delta deficiency,
  • severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive,
  • SCID T cell-negative, B cell-positive, NK cell-positive,
  • UMLS_CUI:C3810147,
  • IMD19,
  • OMIM:615617
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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