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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Id | http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84707
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84707
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|---|---|
| Preferred Name | Familial Mediterranean Fever |
| Definitions |
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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| Synonyms |
Familial Mediterranean Fever
FMF
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Familial Mediterranean Fever
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|---|---|
| Preferred_Name |
Familial Mediterranean Fever
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| Semantic_Type |
Disease or Syndrome
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| prefixIRI |
Thesaurus:C84707
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| DEFINITION |
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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| UMLS_CUI |
C4227883
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| code |
C84707
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| subClassOf | |
| type | |
| FULL_SYN |
Familial Mediterranean Fever
FMF
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| ALT_DEFINITION |
An autoinflammatory disease caused by MEFV gene mutations resulting in enhanced IL-1 beta production. This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis, and/or synovial inflammation along with increased acute phase reactants. Complications may include vasculitis or amyloidosis.
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| Contributing_Source |
Cellosaurus
NICHD
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| Concept_In_Subset |
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