Bardet-Biedl Syndrome
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)
Year introduced: 2000
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Tree Number(s): C10.228.140.617.200, C11.270.684.624, C16.131.077.245.125, C16.320.184.125
MeSH Unique ID: D020788
Entry Terms:
- Bardet Biedl Syndrome
- Syndrome, Bardet-Biedl
- Laurence-Moon-Bardet-Biedl Syndrome
- Laurence Moon Bardet Biedl Syndrome
- Syndrome, Laurence-Moon-Bardet-Biedl
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