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ONTOLOGY REPORT - ANNOTATIONS


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
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Cryopyrin-Associated Periodic Syndromes 8
        familial cold autoinflammatory syndrome 4
          familial cold autoinflammatory syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          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 2 1
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