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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:familial cold autoinflammatory syndrome
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Accession:DOID:0090061 term browser browse the term
Definition:A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)
Synonyms:exact_synonym: FCAS
 xref: OMIM:PS120100


show annotations for term's descendants           Sort by:
familial cold autoinflammatory syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:24033266 PMID:24064030 PMID:25741868 PMID:27314497 PMID:27633793 More... NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome ClinVar PMID:25741868 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 1 OMIM
ClinVar		 PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYADM myeloid associated differentiation marker ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 6:56,236,306...56,278,577
Ensembl chr 6:56,236,311...56,244,185 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 | ClinVar Annotator: match by term: NLRP12-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230725 PMID:21360512 More... NCBI chr 6:56,402,617...56,425,038
Ensembl chr 6:56,402,665...56,425,101 		JBrowse link
G PRKCG protein kinase C gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210 		JBrowse link
G RAPGEFL1 Rap guanine nucleotide exchange factor like 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar NCBI chr12:22,180,928...22,195,841
Ensembl chr12:22,181,849...22,195,840 		JBrowse link
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL COLD URTICARIA | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22236196 PMID:24033266 More... NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060 		JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496 		JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 3:107,358,117...107,389,557 JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      primary immunodeficiency disease 3700
        familial cold autoinflammatory syndrome 13
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 2 4
          familial cold autoinflammatory syndrome 3 1
          familial cold autoinflammatory syndrome 4 7
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        Neurologic Manifestations 9419
          sensory system disease 6506
            skin disease 3704
              Genetic Skin Diseases 1779
                Hereditary Autoinflammatory Diseases 333
                  Cryopyrin-Associated Periodic Syndromes 29
                    familial cold autoinflammatory syndrome 13
                      familial cold autoinflammatory syndrome 1 1
                      familial cold autoinflammatory syndrome 2 4
                      familial cold autoinflammatory syndrome 3 1
                      familial cold autoinflammatory syndrome 4 7
paths to the root