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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9691650
Species: Homo sapiens
RGD Object: Variant
Symbol: CV175979
Name: NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
Acc ID: DOID:9005492
Term: Marfan Lipodystrophy Syndrome
Definition: A syndrome characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. (OMIM)
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.
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