loading...| Preferred Name |
familial Mediterranean fever |
| Synonyms |
benign paroxysmal peritonitis |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_2987 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:134610 ORDO:342 GARD:6421 OMIM:249100 MESH:D010505 UMLS_CUI:C0031069 SNOMEDCT_US_2022_09_01:12579009 NCI:C84707 ICD10CM:M04.1 ICD9CM:277.31 |
| 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. |
| has exact synonym |
benign paroxysmal peritonitis |
| has material basis in | |
| has symptom | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:2987 |
| in_subset | |
| label |
familial Mediterranean fever |
| notation |
DOID:2987 |
| prefLabel |
familial Mediterranean fever |
| subClassOf |