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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:familial Mediterranean fever
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Accession:DOID:2987 term browser browse the term
Definition:An autoinflammatory 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: FAMILIAL PERIODIC FEVER;   FMF;   Familial Paroxysmal Polyserositis;   Periodic Disease;   Wolff periodic disease;   Wolff's periodic disease;   Wolffs periodic disease;   benign paroxysmal peritonitis;   periodic diseases;   periodic fever syndrome;   periodic peritonitis;   recurrent polyserositis
 narrow_synonym: Familial Mediterranean Fever, Autosomal Recessive;   Familial Mediterranean fever, AR
 broad_synonym: MEFV-RELATED CONDITION
 xref: GARD:6421;   ICD10CM:M04.1;   ICD9CM:277.31;   MESH:D010505;   MIM:249100;   MONDO:0018088;   NCI:C84707;   OMIA:001561;   ORDO:342
For additional species annotation, visit the Alliance of Genome Resources.


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familial Mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
no_association
susceptibility		 ISO DNA:SNP: :3435C>T(human)
DNA:SNP,haplotype:exon:3435C>T(human)		 RGD PMID:17610314 PMID:23408444 PMID:24773260 RGD:39456094, RGD:39456097, RGD:39456095 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Ace angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Cat catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cyp3a2 cytochrome P450, family 3, subfamily a, polypeptide 2 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr12:14,321,771...14,343,886
Ensembl chr12:9,015,383...9,285,008 		JBrowse link
G Cyp3a62 cytochrome P450, family 3, subfamily a, polypeptide 62 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr12:16,397,998...16,433,833
Ensembl chr12:16,397,998...16,433,833 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Has2 hyaluronan synthase 2 ISO Periodic Fever Syndrome OMIA PMID:1606750 PMID:8270767 PMID:20080661 PMID:20178474 PMID:21437276 More... NCBI chr 7:90,002,929...90,028,933
Ensembl chr 7:88,113,326...88,128,933 		JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO
ISS		 DNA:mutations:exons
ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Periodic disease
ClinVar Annotator: match by term: Familial Mediterranean fever | ClinVar Annotator: match by term: Familial Periodic Fever | ClinVar Annotator: match by term: Periodic disease
OMIM:134610 | OMIM:249100
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:p. M694V,V726A,E148Q,M680I (human);		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More... RGD:5129184, RGD:7349344, RGD:7349343 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human) RGD PMID:28543752 RGD:38501050 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nlrp12 NLR family, pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:65,932,610...65,969,873
Ensembl chr 1:65,932,595...65,960,934 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 severity ISO DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human) RGD PMID:22244368 RGD:13204709 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Periodic disease ClinVar PMID:15805161 PMID:16876319 PMID:21228398 PMID:25326637 PMID:26673778 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pomc proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
Familial Mediterranean Fever, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: FMF, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Familial Mediterranean fever, autosomal dominant OMIM
ClinVar		 PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More... NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7375
      skin disease 4319
        Genetic Skin Diseases 1888
          Hereditary Autoinflammatory Diseases 364
            familial Mediterranean fever 23
              Familial Mediterranean Fever, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14354
        Neurologic Manifestations 10440
          sensory system disease 7375
            skin disease 4319
              Genetic Skin Diseases 1888
                Hereditary Autoinflammatory Diseases 364
                  familial Mediterranean fever 23
                    Familial Mediterranean Fever, Autosomal Dominant 1
paths to the root