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DO Term : proteosome-associated autoinflammatory syndrome 2 [DOID:0060914] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.
  • synonyms:
  • OMIM:618048,
  • PRAAS2,
  • 618048
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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