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skos:definition |
MSH: A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.,NCI: A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever.
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