Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 2
go back to main search page
Accession:DOID:0090063 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 NLRP12 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: FCAS2;   NLRP12-associated hereditary periodic fever syndrome;   NLRP12-related condition
 related_synonym: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO
 primary_id: MESH:C567090
 alt_id: OMIM:611762
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 1:65,864,180...65,874,701
Ensembl chr 1:65,864,173...65,874,035
JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18230725 PMID:21360512 PMID:21538323 More... NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934
JBrowse link
G Prkcg protein kinase C, gamma ISO ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 2 ClinVar PMID:28492532 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Cryopyrin-Associated Periodic Syndromes 12
        familial cold autoinflammatory syndrome 6
          familial cold autoinflammatory syndrome 2 3
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Genetic Skin Diseases 1051
              Hereditary Autoinflammatory Diseases 117
                Cryopyrin-Associated Periodic Syndromes 12
                  familial cold autoinflammatory syndrome 6
                    familial cold autoinflammatory syndrome 2 3
paths to the root