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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 2
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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
 related_synonym: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO
 primary_id: MESH:C567090
 alt_id: OMIM:611762;   RDO:0015264
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Cryopyrin-Associated Periodic Syndromes 9
        familial cold autoinflammatory syndrome 4
          familial cold autoinflammatory syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Genetic Skin Diseases 890
              Hereditary Autoinflammatory Diseases 107
                Cryopyrin-Associated Periodic Syndromes 9
                  familial cold autoinflammatory syndrome 4
                    familial cold autoinflammatory syndrome 2 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.