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 |
FMF MEFV MEF PAAND |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU041276 http://purl.bioontology.org/ontology/OMIM/MTHU011698 http://purl.bioontology.org/ontology/OMIM/MTHU036750 http://purl.bioontology.org/ontology/OMIM/MTHU027051 http://purl.bioontology.org/ontology/OMIM/MTHU018204 http://purl.bioontology.org/ontology/OMIM/MTHU018210 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU041275 http://purl.bioontology.org/ontology/OMIM/MTHU036407 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU011713 http://purl.bioontology.org/ontology/OMIM/MTHU011701 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
134610 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT |
| Scope Statement |
See also autosomal recessive familial Mediterranean fever (FMF, 249100) [MISCELLANEOUS] Caused by mutation in the pyrin gene (MEFV, 608107.0018) [MOLECULAR BASIS] Onset in childhood or adolescence [MISCELLANEOUS] Colchicine treatment is not effective [MISCELLANEOUS] Favorable response to antibodies against TNF-alpha (TNFA, 191160) [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D010505 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.obolibrary.org/obo/MONDO_0007601 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |