ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant familial periodic fever
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Accession:DOID:0090018 term browser browse the term
Definition:An autosomal dominant 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;   RDO:0002299
 xref: GARD:8457;   ORDO:32960
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autosomal dominant familial periodic fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14875
    sensory system disease 4246
      skin disease 2253
        Genetic Skin Diseases 580
          Hereditary Autoinflammatory Diseases 97
            autosomal dominant familial periodic fever 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                autosomal dominant familial periodic fever 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.