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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 autoimmune 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 Mediterranean Fever, Autosomal Recessive;   Familial Paroxysmal Polyserositis;   Periodic Disease;   Periodic Fever Syndrome;   Periodic Peritonitis;   Wolff periodic disease;   Wolff's periodic disease;   Wolffs periodic disease;   benign paroxysmal peritonitides;   benign paroxysmal peritonitis;   familial paroxysmal polyserositides;   periodic diseases;   periodic peritonitides;   recurrent polyserositides;   recurrent polyserositis
 narrow_synonym: Familial Mediterranean fever, AR
 broad_synonym: MEFV-RELATED CONDITION
 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.


show annotations for term's descendants           Sort by:
familial mediterranean fever term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 no_association
treatment
susceptibility		 ISO DNA:SNP: :3435C>T(human)
DNA:SNP,haplotype:exon:3435C>T(human)		 RGD PMID:17610314 PMID:23408444 PMID:24773260 RGD:39456094 RGD:39456095 RGD:39456097 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility ISO DNA:insertion/deletion:intron 16: RGD PMID:24680475 RGD:40400709 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		JBrowse link
G CAT catalase disease_progression ISO RGD PMID:22135646 RGD:9480233 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 sexual_dimorphism ISO DNA:SNPs: :15713T>C,15615T>C (human) RGD PMID:23408444 RGD:39456097 NCBI chr 6:9,836,685...9,869,520
Ensembl chr 6:9,777,659...9,869,352 		JBrowse link
G F2 coagulation factor II, thrombin ISO protein:increased expression:blood plasma (human) RGD PMID:16721492 RGD:40818434 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459 		JBrowse link
G HAS2 hyaluronan synthase 2 IAGP Periodic Fever Syndrome OMIA PMID:1606750 PMID:8270767 PMID:20080661 PMID:20178474 PMID:21437276 More... NCBI chr13:20,310,946...20,342,647
Ensembl chr13:20,309,872...20,341,636 		JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:21428190 RGD:5508806 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G IL18 interleukin 18 ISO protein:increased expression:serum RGD PMID:16273770 RGD:8655877 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:serum RGD PMID:22384525 RGD:6482659 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20518740 RGD:5686880 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO 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
ClinVar		 PMID:2703059 PMID:5458961 PMID:7677151 PMID:9288094 PMID:9288758 More... NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737 		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 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 ISO ClinVar Annotator: match by term: Periodic fever syndrome ClinVar PMID:28492532 NCBI chr 1:103,571,756...103,605,692 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 chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232 		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:25741868 More... NCBI chr12:19,280,866...19,744,669
Ensembl chr12:19,286,822...19,744,141 		JBrowse link
G POMC proopiomelanocortin ISO protein: decreassed expression: plasma: ACTH RGD PMID:21428190 RGD:5508806 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980 		JBrowse link
G SERPINE1 serpin family E member 1 susceptibility ISO DNA:polymorphism:promoter:rs1799768 (human) RGD PMID:22736074 RGD:13207415 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G THBD thrombomodulin ISO protein:increased expression:blood RGD PMID:17067436 RGD:5685013 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649 		JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:polymorphism:exon:p.D299G(human) RGD PMID:19445990 RGD:7794686 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Familial Periodic Fever ClinVar PMID:25741868 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		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 chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      primary immunodeficiency disease 3735
        autoimmune disease 1994
          familial mediterranean fever 22
            Familial Mediterranean Fever, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 17773
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6589
            skin disease 3751
              Genetic Skin Diseases 1818
                Hereditary Autoinflammatory Diseases 340
                  familial mediterranean fever 22
                    Familial Mediterranean Fever, Autosomal Dominant 1
paths to the root