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GENE - TERM ANNOTATION REPORT

RGD ID: 11814854
Species: Pan paniscus
RGD Object: Gene
Symbol: FBN2
Name: fibrillin 2
Acc ID: DOID:0050646
Term: distal arthrogryposis
Definition: A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Arthrogryposis "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
FBN2 ISOFbn2 (Mus musculus)9068941MouseDOOMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065 
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