encyclopedia of medical concepts
ψ 
ψ 

Bardet-Biedl Syndrome

More information in Books or onNLM PubMed
Definition: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)  note entry term: do not confuse with LAURENCE-MOON SYNDROME   
See Also Intellectual Disability 		Other names Syndrome, Laurence-Moon-Bardet-Biedl; Syndrome, Bardet-Biedl; Laurence Moon Bardet Biedl Syndrome; Bardet Biedl Syndrome; Laurence-Moon-Bardet-Biedl Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
BBS5 protein, mouse  0   *Carrier Proteins Bardet-Biedl Syndrome. Cell Mol Life Sci. 2011 Sep;68(17):2951-60
Bardet-Biedl syndrome 4  0   *Bardet-Biedl Syndrome.
Bardet-Biedl syndrome 3  0   *Bardet-Biedl Syndrome.
Bardet-Biedl syndrome 2  0   *Bardet-Biedl Syndrome.
Bardet-Biedl syndrome 1  0   *Bardet-Biedl Syndrome.
CCDC28B protein, human  0   *Cell Cycle Proteins Bardet-Biedl Syndrome. Nature. 2006 Jan 19;439(7074):326-30
BBS-7 protein, C elegans  0   *Nerve Tissue Proteins *Caenorhabditis elegans Proteins Bardet-Biedl Syndrome. Nature. 2005 Jul 28;436(7050):583-7
BBS-8 protein, C elegans  0   *Nerve Tissue Proteins *Caenorhabditis elegans Proteins Bardet-Biedl Syndrome. Nature. 2005 Jul 28;436(7050):583-7
ARL6 protein, human  EC 3.6.1.2   *ADP-Ribosylation Factors Bardet-Biedl Syndrome. Nat Genet 2004 Sep;36(9):989-93
BBS5 protein, human  0   *Proteins Bardet-Biedl Syndrome. Cell 2004 May 14;117(4):541-52
TTC8 protein, human  0   *Proteins Bardet-Biedl Syndrome. Nature 2003 Oct 9;425(6958);628-33
Bbs2 protein, human  0   *Proteins Bardet-Biedl Syndrome. Am J Hum Genet 2003 Mar;72(3):650-8
Bbs7 protein, human  0   *Proteins Bardet-Biedl Syndrome. Am J Hum Genet 2003 Mar;72(3):650-8
Bbs1 protein, human  0   *Microtubule-Associated Proteins Bardet-Biedl Syndrome. Nat Genet 2002 Aug;31(4):435-8
BBS4 protein, human  0   *Proteins Bardet-Biedl Syndrome. Nat Genet. 2001 Jun;28(2):188-91

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify. We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy