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About: ROSAH syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Disease, within Data Space : dbpedia.org associated with source document(s)

Type: ThingFuchs' dystrophydisease New Facet based on Instances of this Class

ROSAH syndrome is a genetic disease of innate immune activation. ROSAH stands for Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis and Headache and the name emphasizes some, but not all, of the features that can be associated with the syndrome. The disease is inherited in an autosomal dominant manner and caused by heterozygous missense mutations in the ALPK1 gene, an innate immune sensor for bacterial sugars.