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ONTOLOGY REPORT - ANNOTATIONS


Term:familial cold autoinflammatory syndrome
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Accession:DOID:0090061 term browser browse the term
Definition:A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)
Synonyms:xref: OMIM:PS120100
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familial cold autoinflammatory syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:8554872
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:8554872
familial cold autoinflammatory syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp3 NLR family, pyrin domain containing 3 JBrowse link 10 45,884,324 45,918,290 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:7240710
RGD:8554872
familial cold autoinflammatory syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcg2 phospholipase C, gamma 2 JBrowse link 19 50,039,410 50,173,543 RGD:7240710
RGD:8554872
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 15626
    syndrome 5163
      primary immunodeficiency disease 957
        familial cold autoinflammatory syndrome 4
          familial cold autoinflammatory syndrome 1 1
          familial cold autoinflammatory syndrome 2 1
          familial cold autoinflammatory syndrome 3 1
          familial cold autoinflammatory syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          skin disease 2467
            Genetic Skin Diseases 753
              Hereditary Autoinflammatory Diseases 93
                Cryopyrin-Associated Periodic Syndromes 8
                  familial cold autoinflammatory syndrome 4
                    familial cold autoinflammatory syndrome 1 1
                    familial cold autoinflammatory syndrome 2 1
                    familial cold autoinflammatory syndrome 3 1
                    familial cold autoinflammatory syndrome 4 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.