• Bardet-Biedl Syndrome
  Bardet-Biedl Syndrome

  An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndr...<br/>Year introduced: 2000
  MeSH
• Pentalogy of Cantrell
  Pentalogy of Cantrell

  Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdomina...<br/>Year introduced: 2011
  MeSH

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