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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., 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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