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| General Information | |||
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| Term | familial Mediterranean fever | ID (Ontology) | DOID:2987 (Human Disease) |
| 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. | ||
| Also Known As | "benign paroxysmal peritonitis" ; "FMF" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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monogenic disease |__autosomal genetic disease_____ primary immunodeficiency disease | |__autoinflammatory disease______| familial Mediterranean fever |
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| Is a |
autosomal genetic disease autoinflammatory disease |
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External Crossreferences & Linkouts
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GARD:6421 ICD10CM:M04.1 ICD9CM:277.31 MESH:D010505 MIM:134610 MIM:249100 NCI:C84707 ORDO:342 SNOMEDCT_US_2023_03_01:12579009 UMLS_CUI:C0031069 |
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