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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:xref: OMIM:PS120100
For additional species annotation, visit the Alliance of Genome Resources.


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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 PMID:28492532 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
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 PMID:15593220 PMID:17038455 PMID:17213252 PMID:17393462 PMID:20159265 PMID:22566169 PMID:23421920 PMID:24033266 PMID:24123366 PMID:24135410 PMID:25038238 PMID:25596455 PMID:25741868 PMID:26020059 PMID:26467025 PMID:26531310 PMID:27994174 PMID:28492532 PMID:28692792 PMID:29159471 PMID:29922587 PMID:30407166 PMID:30808881 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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: Familial cold autoinflammatory syndrome 1
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
ClinVar Annotator: match by OMIM:120100
OMIM
ClinVar
PMID:49161 PMID:447320 PMID:5173311 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 PMID:12483741 PMID:12522564 PMID:14630794 PMID:14872505 PMID:15020601 PMID:15334500 PMID:15593220 PMID:15724022 PMID:15801036 PMID:16081838 PMID:16100350 PMID:16255047 PMID:16646042 PMID:16802372 PMID:16920754 PMID:17038455 PMID:17178739 PMID:17213252 PMID:17284928 PMID:17393462 PMID:17509468 PMID:17513575 PMID:18063752 PMID:18080732 PMID:18263599 PMID:18311798 PMID:19319132 PMID:19501000 PMID:20159265 PMID:20182451 PMID:20472245 PMID:21109514 PMID:21245836 PMID:21356079 PMID:21621776 PMID:21702021 PMID:22128899 PMID:22193915 PMID:22403613 PMID:22512814 PMID:22524199 PMID:22529966 PMID:22566169 PMID:22661645 PMID:22843550 PMID:22935299 PMID:23015306 PMID:23421920 PMID:23442610 PMID:23703389 PMID:24033266 PMID:24098386 PMID:24123366 PMID:24135410 PMID:24158955 PMID:24365011 PMID:24431285 PMID:24517500 PMID:24649046 PMID:24759409 PMID:24773462 PMID:25038238 PMID:25584041 PMID:25586466 PMID:25596455 PMID:25639832 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:27134254 PMID:27191192 PMID:27692610 PMID:27819323 PMID:27943240 PMID:27943647 PMID:27994174 PMID:28028683 PMID:28079503 PMID:28137891 PMID:28166811 PMID:28185410 PMID:28421071 PMID:28492532 PMID:28501347 PMID:28692792 PMID:29047407 PMID:29102545 PMID:29117789 PMID:29148409 PMID:29159471 PMID:29163488 PMID:29322034 PMID:29922587 PMID:29977033 PMID:29988644 PMID:30214525 PMID:30311386 PMID:30338413 PMID:30407166 PMID:30431487 PMID:30808881 PMID:32082075 PMID:32199921 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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 1:64,438,465...64,448,332
Ensembl chr 1:64,438,472...64,446,818
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: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 PMID:24033266 PMID:24064030 PMID:25064839 PMID:25741868 PMID:26386126 PMID:27314497 PMID:27633793 PMID:28166811 PMID:28492532 PMID:29500522 PMID:30788684 PMID:31820221 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
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 cold autoinflammatory syndrome 3
ClinVar Annotator: match by OMIM:614468
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22236196 PMID:25640679 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29590070 PMID:29921932 PMID:30273710 PMID:30344948 PMID:30619256 NCBI chr19:50,039,410...50,173,543
Ensembl chr19:50,045,020...50,173,220
JBrowse link
familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrc4 NLR family, CARD domain containing 4 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4 OMIM
ClinVar
PMID:25385754 PMID:25741868 PMID:27974463 PMID:28492532 PMID:29778503 NCBI chr 6:22,167,874...22,194,755
Ensembl chr 6:22,167,919...22,194,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        familial cold autoinflammatory syndrome 6
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 2 3
          familial cold autoinflammatory syndrome 3 1
          familial cold autoinflammatory syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Genetic Skin Diseases 1041
              Hereditary Autoinflammatory Diseases 116
                Cryopyrin-Associated Periodic Syndromes 12
                  familial cold autoinflammatory syndrome 6
                    familial cold autoinflammatory syndrome 1 1
                    familial cold autoinflammatory syndrome 2 3
                    familial cold autoinflammatory syndrome 3 1
                    familial cold autoinflammatory syndrome 4 1
paths to the root