Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Muckle-Wells syndrome
go back to main search page
Accession:DOID:0050854 term browser browse the term
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 NLRP3 on chromosome 1q44. (DO)
Synonyms:exact_synonym: CAPS2;   MWS;   UDA syndrome;   cryopyrin-associated periodic syndrome 2;   neutrophilic urticaria;   urticaria-deafness-amyloidosis syndrome
 primary_id: OMIM:191900
 xref: GARD:8472;   ICD10CM:M04.2;   NCI:C119054;   ORDO:575
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Muckle-Wells syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by OMIM:191900
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by term: UDA syndrome
OMIM
ClinVar
CTD
PMID:11687797 PMID:11992256 PMID:12032915 PMID:12522564 PMID:15020601 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cryopyrin-Associated Periodic Syndromes 12
        Muckle-Wells syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  Deafness 386
                    Muckle-Wells syndrome 2
paths to the root