| General Information | |||
|---|---|---|---|
| Term | Muckle-Wells syndrome | ID (Ontology) | DOID:0050854 (Human Disease) |
| 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. | ||
| Also Known As | "MWS" ; "neutrophilic urticaria" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| Muckle-Wells syndrome |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal dominant disease syndrome |
||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
|
GARD:8472 ICD10CM:M04.2 MEDDRA:10064569 MESH:D056587 MIM:191900 NCI:C119054 ORDO:575 SNOMEDCT_US_2023_03_01:15123008 UMLS_CUI:C0268390 |
|||