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ONTOLOGY REPORT - ANNOTATIONS


Term:familial Mediterranean fever
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Accession:DOID:2987 term browser browse the term
Definition:An autoimmune hypersensitivity disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. (DO)
Synonyms:exact_synonym: 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;   benign paroxysmal peritonitides
 primary_id: MESH:D010505
 alt_id: OMIA:001561;   OMIM:249100
 xref: GARD:6421;   ICD10CM:M04.1;   ICD9CM:277.31;   NCI:C84707;   ORDO:342
For additional species annotation, visit the Alliance of Genome Resources.


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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 Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9480233
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 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 Nlrp12 NLR family, pyrin domain containing 12 JBrowse link 1 64,506,750 64,543,908 RGD:8554872
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:13204709
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:5508806
G Scnn1a sodium channel epithelial 1 subunit alpha JBrowse link 4 157,834,339 157,860,472 RGD:8554872
G Serpine1 serpin family E member 1 JBrowse link 12 22,641,104 22,651,482 RGD:13207415
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 16021
    disease of anatomical entity 15274
      Immune & Inflammatory Diseases 3421
        Inflammation 2131
          Hereditary Autoinflammatory Diseases 102
            familial Mediterranean fever 15
              Familial Mediterranean Fever, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          skin disease 2654
            Genetic Skin Diseases 884
              Hereditary Autoinflammatory Diseases 102
                familial Mediterranean fever 15
                  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.