Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Id http://purl.obolibrary.org/obo/DOID_2987
http://purl.obolibrary.org/obo/DOID_2987
Preferred Name

familial Mediterranean fever
Definitions
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. Xref MGI. OMIM mapping confirmed by DO. [SN].
Synonyms
benign paroxysmal peritonitis
FMF
Type http://www.w3.org/2002/07/owl#Class

All Properties

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.

Xref MGI. OMIM mapping confirmed by DO. [SN].
alternative label
benign paroxysmal peritonitis
FMF
preferred label
familial Mediterranean fever
label
familial Mediterranean fever
comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
prefLabel
familial Mediterranean fever
database_cross_reference
ICD9CM:277.31
UMLS_CUI:C0031069
ICD10CM:M04.1
MESH:D010505
SNOMEDCT_US_2023_03_01:12579009
GARD:6421
MIM:134610
MIM:249100
NCI:C84707
ORDO:342
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notation
DOID:2987
in_subset
id
DOID:2987
note
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.
Xref MGI. OMIM mapping confirmed by DO. [SN].
has phenotype
has symptom
has material basis in
has_obo_namespace
disease_ontology
subClassOf
type
has exact synonym
benign paroxysmal peritonitis
FMF
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