familial Mediterranean fever
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autoimmune disease |
| gptkbp:alsoKnownAs |
recurrent polyserositis
periodic disease |
| gptkbp:commonIn |
gptkb:Arabs
gptkb:Sephardic_Jews gptkb:Armenians gptkb:Turks people of Mediterranean descent |
| gptkbp:complication |
amyloidosis
|
| gptkbp:firstDescribed |
1945
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial Mediterranean fever
|
| gptkbp:ICD-10_code |
E85.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:MEFV_gene
|
| gptkbp:OMIM |
249100
|
| gptkbp:symptom |
abdominal pain
joint pain chest pain skin rash recurrent fever |
| gptkbp:treatment |
colchicine
|
| gptkbp:bfsParent |
gptkb:chromosome_16_(human)
gptkb:chromosome_16 gptkb:TNFR1 gptkb:Colcrys gptkb:Colchicine |
| gptkbp:bfsLayer |
7
|