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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
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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.


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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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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 PMID:16100350 PMID:16255047 PMID:17178739 PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22524199 PMID:22529966 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25586466 PMID:25596455 PMID:25730877 PMID:25741868 PMID:25766347 PMID:25821352 PMID:25979514 PMID:26020059 PMID:26033552 PMID:26178285 PMID:26218404 PMID:26245507 PMID:26273672 PMID:26386126 PMID:26467025 PMID:26531310 PMID:26535712 PMID:26590045 PMID:26848126 PMID:26931528 PMID:27036377 PMID:27060062 PMID:27191192 PMID:27819323 PMID:27943647 PMID:28028683 PMID:28137891 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29322034 PMID:29977033 PMID:30214525 PMID:30431487 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Cryopyrin-Associated Periodic Syndromes 9
        Muckle-Wells syndrome 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          Otorhinolaryngologic Diseases 1158
            auditory system disease 744
              Hearing Disorders 604
                Hearing Loss 600
                  Deafness 277
                    Muckle-Wells syndrome 2
paths to the root