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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease bardet-biedl syndrome
Comorbidity C0028754|obesity
Sentences 6
PubMedID- 21514177 Molecular basis of the obesity associated with bardet-biedl syndrome.
PubMedID- 26473736 We set out to characterize stigma and courtesy stigma experiences surrounding obesity among children with bardet-biedl syndrome (bbs), a multisystem genetic disorder, and their parents.
PubMedID- 24739123 Bbip1 was recently shown to cause a recessive type of bardet-biedl syndrome with retinitis pigmentosa, obesity, kidney failure, cognitive disability and brachydactyly [22], phenotypes that are obviously different from our patient.
PubMedID- 26566502 A 24-year-old korean man had bardet-biedl syndrome with diabetes, blindness, obesity, and a history of polydactyly.
PubMedID- 22669322 obesity in patients with bardet-biedl syndrome: influence of appetite-regulating hormones.
PubMedID- 24348551 Recently, loss of mchr1 localization to primary cilia has been linked to the severe obesity seen with bardet-biedl syndrome [7], suggesting that regulation of mch signaling plays an important role in energy homeostasis and that this pathway could become a pharmacological target to curb appetite.

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