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GENE - TERM ANNOTATION REPORT

RGD ID: 1314946
Species: Mus musculus
RGD Object: Gene
Symbol: Nod2
Name: nucleotide-binding oligomerization domain containing 2
Acc ID: DOID:2987
Term: familial Mediterranean fever
Definition: 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.
Definition Source(s): MESH:D010505, http://en.wikipedia.org/wiki/Familial_Mediterranean_fever, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
severityISORGD:131494513204709RGDDNA:mutations:cds:p.G908R, p.R702W, p.L1007fsinsC(human)

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.