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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

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

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

benign paroxysmal peritonitis [EXACT]

FMF [EXACT]

Parent Relationships

is_a autoimmune disease

is_a autosomal genetic disease

Subclass Logical Relationships

has material basis in some autosomal inheritance

has symptom some inflammation

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