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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant familial periodic fever
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Accession:DOID:0090018 term browser browse the term
Definition:A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: FHF;   FPF;   TNF receptor 1-associated periodic syndrome;   TNF receptor-associated periodic fever syndrome (TRAPS);   TNF receptor-associated periodic syndrome;   TNF receptor-associated periodic syndrome (TRAPS);   TRAPS;   familial hibernian fever;   tumor necrosis factor receptor 1 associated periodic syndrome;   tumor necrosis factor receptor-associated periodic syndrome
 primary_id: MESH:C536657
 alt_id: OMIM:142680
 xref: GARD:8457;   ICD10CM:E85.0;   ORDO:32960
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autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scnn1a sodium channel epithelial 1 subunit alpha JBrowse link 4 157,834,339 157,860,472 RGD:8554872
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      primary immunodeficiency disease 1115
        autosomal dominant familial periodic fever 2
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          skin disease 2652
            Genetic Skin Diseases 884
              Hereditary Autoinflammatory Diseases 102
                autosomal dominant familial periodic fever 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.