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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 1
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Accession:DOID:0090062 term browser browse the term
Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)
Synonyms:exact_synonym: CAPS1;   CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1;   FCAS1
 primary_id: OMIM:120100
 alt_id: RDO:0007925
 xref: ORDO:47045
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:120100
ClinVar Annotator: match by term: CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1
ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        urticaria 40
          familial cold autoinflammatory syndrome 1 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
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.