loading...| Preferred Name |
FAMILIAL MEDITERRANEAN FEVER |
|
| Synonyms |
POLYSEROSITIS, FAMILIAL PAROXYSMAL FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE POLYSEROSITIS, RECURRENT FMF |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/249100 |
|
| altLabel |
POLYSEROSITIS, FAMILIAL PAROXYSMAL FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE POLYSEROSITIS, RECURRENT FMF |
|
| cui |
C0031069 C5399837 |
|
| Gene Locus |
16p13 |
|
| Gene Symbol |
PAAND FMF MEFV MEF |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005994 http://purl.bioontology.org/ontology/OMIM/MTHU011698 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU011713 http://purl.bioontology.org/ontology/OMIM/MTHU011701 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU037690 http://purl.bioontology.org/ontology/OMIM/MTHU011702 http://purl.bioontology.org/ontology/OMIM/MTHU011697 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU042022 http://purl.bioontology.org/ontology/OMIM/MTHU036764 http://purl.bioontology.org/ontology/OMIM/MTHU011704 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU011706 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
249100 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
FAMILIAL MEDITERRANEAN FEVER |
|
| Scope Statement |
Attack frequency may occur several times per week to once per year [MISCELLANEOUS] Onset often begins in childhood or adolescence [MISCELLANEOUS] Prevalent in Arabic, Turkish, Armenian, and Sephardic Jewish populations [MISCELLANEOUS] See also autosomal dominant FMF (134610), caused by heterozygous mutations in the MEFV gene [MISCELLANEOUS] Acute attacks lasting 24-48 hours [MISCELLANEOUS] Caused by mutations in the pyrin gene (MEFV, 608107.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |