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Ontology Browser

Term:
Proteasome-Associated Autoinflammatory Syndrome 3 (DOID:9009202)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
JMP syndrome  
Proteasome-Associated Autoinflammatory Syndrome 2  
Proteasome-Associated Autoinflammatory Syndrome 3  
An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM)
Proteasome-Associated Autoinflammatory Syndrome 4  
Proteasome-Associated Autoinflammatory Syndrome 5  

Synonyms
Exact Synonyms: PRAAS3 ;   PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC
Primary IDs: OMIM:617591

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