Terminology Service for NFDI4Health
familial Mediterranean fever
Go to external page
http://purl.obolibrary.org/obo/DOID_2987
An autoimmune hypersensitivity 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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
familial Mediterranean fever
Synonyms
- benign paroxysmal peritonitis
Subsets
DO_rare_slim, NCIthesaurus
comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:2987