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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 the NLRP3 gene on chromosome 1q44. (DO)
Synonyms:exact_synonym: CAPS2;   MWS;   UDA syndrome;   cryopyrin-associated periodic syndrome 2;   neutrophilic urticaria;   urticaria-deafness-amyloidosis syndrome
 primary_id: MIM:191900
 xref: GARD:8472;   ICD10CM:M04.2;   NCI:C119054;   ORDO:575


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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 3:7,111,567...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 term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 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 19106
    syndrome 11278
      Cryopyrin-Associated Periodic Syndromes 32
        Muckle-Wells syndrome 2
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      nervous system disease 14349
        Neurologic Manifestations 10433
          sensory system disease 7336
            Otorhinolaryngologic Diseases 1795
              auditory system disease 1055
                Hearing Disorders 842
                  Hearing Loss 837
                    Deafness 381
                      Muckle-Wells syndrome 2
paths to the root