Metadata | |
---|---|
ID | DOID:2987 |
Name | familial Mediterranean fever |
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. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract, http://en.wikipedia.org/wiki/Familial_Mediterranean_fever |
Xrefs |
SNOMEDCT_US_2023_03_01:12579009 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
benign paroxysmal peritonitis [EXACT] FMF [EXACT] |
Parent Relationships |
is_a autoimmune disease |
Subclass Logical Relationships |
has material basis in some autosomal inheritance has symptom some inflammation |