ONTOLOGY REPORT - ANNOTATIONS


Term:familial Mediterranean fever
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Accession:DOID:2987 term browser browse the term
Definition:A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.
Synonyms:exact_synonym: Benign Paroxysmal Peritonitides;   Benign Paroxysmal Peritonitis;   FAMILIAL PERIODIC FEVER;   FMF;   Familial Mediterranean Fever, Autosomal Recessive;   Familial Paroxysmal Polyserositides;   Familial Paroxysmal Polyserositis;   Periodic Disease;   Periodic Diseases;   Periodic Fever Syndrome;   Periodic Peritonitides;   Periodic Peritonitis;   Recurrent Polyserositides;   Recurrent Polyserositis;   Wolff Periodic Disease;   Wolff's Periodic Disease;   Wolffs Periodic Disease
 primary_id: MESH:D010505;   RDO:0006328
 alt_id: OMIA:001561;   OMIM:249100
 xref: GARD:6421;   ORDO:342
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familial Mediterranean fever term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adipoq adiponectin, C1Q and collagen domain containing JBrowse link 11 81,330,845 81,344,488 RGD:5686880
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:8554872
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9480233
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:5508806
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655877
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:6482659
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:5686880
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:5129184
RGD:8554872
RGD:11554173
RGD:7349344
RGD:7349343
RGD:7240710
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:13204709
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:5508806
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
G Serpina1 serpin family A member 1 JBrowse link 6 127,610,241 127,632,265 RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13207415
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Thbd thrombomodulin JBrowse link 3 142,748,673 142,752,325 RGD:5685013
G Tlr4 toll-like receptor 4 JBrowse link 5 82,587,424 82,601,056 RGD:7794686
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      immune system disease 2440
        hypersensitivity reaction disease 1488
          autoimmune hypersensitivity disease 1197
            familial Mediterranean fever 20
              Familial Mediterranean Fever, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Genetic Skin Diseases 580
              Hereditary Autoinflammatory Diseases 97
                familial Mediterranean fever 20
                  Familial Mediterranean Fever, Autosomal Dominant 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.