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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 4
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Accession:DOID:0090065 term browser browse the term
Definition:A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: FCAS4
 primary_id: OMIM:616115
 xref: ICD10CM:L50.2;   ORDO:47045
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Cryopyrin-Associated Periodic Syndromes 12
        familial cold autoinflammatory syndrome 6
          familial cold autoinflammatory syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        sensory system disease 5580
          skin disease 2943
            Genetic Skin Diseases 1041
              Hereditary Autoinflammatory Diseases 116
                Cryopyrin-Associated Periodic Syndromes 12
                  familial cold autoinflammatory syndrome 6
                    familial cold autoinflammatory syndrome 4 1
paths to the root