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DO Term : autoinflammation, antibody deficiency, and immune dysregulation syndrome [DOID:0070615] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23.
  • synonyms:
  • OMIM:614878,
  • ORDO:324530,
  • GARD:17486,
  • 614878,
  • APLAID,
  • UMLS_CUI:C3553961,
  • autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
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Ontology

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Ontology Term --> Direct parents