loading...| Preferred Name |
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT |
|
| Synonyms |
FMF, AUTOSOMAL DOMINANT |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/134610 |
|
| altLabel |
FMF, AUTOSOMAL DOMINANT |
|
| cui |
C1851347 |
|
| Gene Locus |
16p13 |
|
| Gene Symbol |
PAAND FMF MEFV MEF |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU011698 http://purl.bioontology.org/ontology/OMIM/MTHU011713 http://purl.bioontology.org/ontology/OMIM/MTHU018204 http://purl.bioontology.org/ontology/OMIM/MTHU011701 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU027051 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU018205 http://purl.bioontology.org/ontology/OMIM/MTHU041275 http://purl.bioontology.org/ontology/OMIM/MTHU018210 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU041276 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
134610 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT |
|
| Scope Statement |
Caused by mutation in the pyrin gene (MEFV, 608107.0018) [MOLECULAR BASIS] Favorable response to antibodies against TNF-alpha (TNFA, 191160) [MISCELLANEOUS] See also autosomal recessive familial Mediterranean fever (FMF, 249100) [MISCELLANEOUS] Onset in childhood or adolescence [MISCELLANEOUS] Colchicine treatment is not effective [MISCELLANEOUS] |
|
| tui |
T047 |