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Metadata
ID DOID:0050854
Name Muckle-Wells syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/11687797, https://www.ncbi.nlm.nih.gov/pubmed/11992256
Xrefs

GARD:8472

ICD10CM:M04.2

MEDDRA:10064569

MESH:D056587

NCI:C119054

OMIM:191900

ORDO:575

SNOMEDCT_US_2019_09_01:15123008

UMLS_CUI:C0268390

Synonyms

MWS [EXACT]

neutrophilic urticaria [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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