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ONTOLOGY REPORT - ANNOTATIONS


Term:familial cold autoinflammatory syndrome 3
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Accession:DOID:0090064 term browser browse the term
Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. (DO)
Synonyms:exact_synonym: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED;   FACU;   FAMILIAL ATYPICAL COLD URTICARIA;   FCAS3;   PLAID
 primary_id: OMIM:614468
 alt_id: RDO:9000300
 xref: ORDO:300359
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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

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Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      primary immunodeficiency disease 957
        familial cold autoinflammatory syndrome 4
          familial cold autoinflammatory syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          skin disease 2472
            Genetic Skin Diseases 757
              Hereditary Autoinflammatory Diseases 93
                Cryopyrin-Associated Periodic Syndromes 8
                  familial cold autoinflammatory syndrome 4
                    familial cold autoinflammatory syndrome 3 1
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