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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: RDO:9001353
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familial cold autoinflammatory syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrc4 NLR family, CARD domain containing 4 JBrowse link 6 22,167,874 22,194,755 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Cryopyrin-Associated Periodic Syndromes 8
        familial cold autoinflammatory syndrome 4
          familial cold autoinflammatory syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          skin disease 2461
            Genetic Skin Diseases 752
              Hereditary Autoinflammatory Diseases 93
                Cryopyrin-Associated Periodic Syndromes 8
                  familial cold autoinflammatory syndrome 4
                    familial cold autoinflammatory syndrome 4 1
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