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Metadata
ID	DOID:0060914
Name	proteosome-associated autoinflammatory syndrome 2
Definition	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. https://pubmed.ncbi.nlm.nih.gov/29805043/
Xrefs	MIM:618048
Synonyms	PRAAS2 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a proteosome-associated autoinflammatory syndrome
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance