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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.


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, 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:12355493, PMID:14872505, 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:26531310, PMID:27994174, PMID:28492532, PMID:28692792 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: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
ClinVar Annotator: match by OMIM:120100
OMIM
ClinVar
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
familial cold autoinflammatory syndrome 2 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 2
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:18230725, PMID:21360512, PMID:21538323, PMID:24033266, PMID:24064030, PMID:25064839, PMID:25741868, PMID:26386126, PMID:27314497, PMID:27633793, PMID:28492532, PMID:30788684 NCBI chr 1:64,506,750...64,543,908
Ensembl chr 1:64,506,735...64,534,912
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:22236196, PMID:25741868, 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: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 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        familial cold autoinflammatory syndrome 4
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 2 1
          familial cold autoinflammatory syndrome 3 1
          familial cold autoinflammatory syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            Genetic Skin Diseases 891
              Hereditary Autoinflammatory Diseases 108
                Cryopyrin-Associated Periodic Syndromes 9
                  familial cold autoinflammatory syndrome 4
                    familial cold autoinflammatory syndrome 1 1
                    familial cold autoinflammatory syndrome 2 1
                    familial cold autoinflammatory syndrome 3 1
                    familial cold autoinflammatory syndrome 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.