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Summary Literature (0)
DOID:0050854 - Muckle-Wells syndrome


Disease Ontology Definition:A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44.

Synonyms: MWS, neutrophilic urticaria

Xenbase Genes : nlrp3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008633 - Muckle-Wells syndrome

OMIM:
OMIM:191900 - MUCKLE-WELLS SYNDROME; MWS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)