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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Muckle-Wells syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0050854
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16885 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | |
| P21589 | 5'-nucleotidase | |
| Q13478 | Interleukin-18 receptor 1 |
