| Metadata | |
|---|---|
| ID | DOID:2987 |
| PURL | http://purl.obolibrary.org/obo/DOID_2987 Copy |
| Name | familial Mediterranean fever |
| 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. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract, http://en.wikipedia.org/wiki/Familial_Mediterranean_fever |
| Xrefs |
SNOMEDCT_US_2025_09_01:12579009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
benign paroxysmal peritonitis [EXACT] FMF [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal inheritance disease has basis in some gene has symptom some inflammation |