Cryopyrin-Associated Periodic Syndromes
Disease ID: disease_node_12214
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| Dbxref | GARD:8472, ICD10CM:M04.2, MEDDRA:10064569, MESH:D056587, MIM:191900, NCI:C119054, ORDO:575, SNOMEDCT_US_2023_03_01:15123008, UMLS_CUI:C0268390 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | MWS, neutrophilic urticaria |
| Mesh Id | D056587 |
| Mesh Label | Cryopyrin-Associated Periodic Syndromes |
| Mesh Subclassof | D056660, D000096703, D000094482 |
| Doid Label | Muckle-Wells syndrome |
| Doid 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_12214 |
| Doid Id | DOID_0050854 |
| Label | Cryopyrin-Associated Periodic Syndromes |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)