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DO Term : immunodeficiency 16 [DOID:0111935] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33.
  • synonyms:
  • combined immunodeficiency with childhood-onset Kaposi sarcoma,
  • combined immunodeficiency with impaired immunity to human herpes virus 8,
  • IMD16,
  • ORDO:431149,
  • UMLS_CUI:C3810053,
  • 615593,
  • combined immunodeficiency with impaired immunity to HHV-8,
  • combined immunodeficiency due to OX40 deficiency,
  • OMIM:615593,
  • OX40 deficiency
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents