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DO Term : Muckle-Wells syndrome [DOID:0050854] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:D056587,
  • NCI:C119054,
  • 191900,
  • ICD10CM:M04.2,
  • neutrophilic urticaria,
  • ORDO:575,
  • MEDDRA:10064569,
  • GARD:8472,
  • UMLS_CUI:C0268390,
  • MWS,
  • OMIM:191900,
  • SNOMEDCT_US_2023_03_01:15123008
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents