OBO ID: DOID:0050854
Term Name: Muckle-Wells syndrome Search Ontology:
Synonyms:
  • MWS
  • neutrophilic urticaria
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 the NLRP3 gene on chromosome 1q44. (2)
References:
  • GARD:8472
  • ICD10CM:M04.2
  • MEDDRA:10064569
  • MESH:D056587
  • NCI:C119054
  • OMIM:191900
  • ORDO:575
  • SNOMEDCT_US_2023_03_01:15123008
  • UMLS_CUI:C0268390
Ontology: Human Disease   ( DOID:0050854 )
Relationships
is a type of:
OTHER Muckle-Wells syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NLRP3 Muckle-Wells syndrome 191900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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