Smith-Lemli-Opitz syndrome (Q998273)

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an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase
  • Rutledge lethal multiple congenital anomaly syndrome
  • Smith-Opitz-Inborn syndrome
  • Smith–Lemli–Opitz syndrome
  • 7-dehydrocholesterol reductase deficiency
  • Smith Lemli Opitz syndrome
  • SLOS
  • SMITH-LEMLI-OPITZ SYNDROME; SLOS
  • Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
  • Rsh Syndrome
  • Lethal Acrodysgenital Syndrome
  • Slo Syndrome
  • Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung
  • SMITH-LEMLI-OPITZ SYNDROME
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Language Label Description Also known as
English
Smith-Lemli-Opitz syndrome
an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase
  • Rutledge lethal multiple congenital anomaly syndrome
  • Smith-Opitz-Inborn syndrome
  • Smith–Lemli–Opitz syndrome
  • 7-dehydrocholesterol reductase deficiency
  • Smith Lemli Opitz syndrome
  • SLOS
  • SMITH-LEMLI-OPITZ SYNDROME; SLOS
  • Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
  • Rsh Syndrome
  • Lethal Acrodysgenital Syndrome
  • Slo Syndrome
  • Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung
  • SMITH-LEMLI-OPITZ SYNDROME

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