Inborn Errors Steroid Metabolism

Steroid Metabolism, Inborn Errors; Congenital Errors of Steroid Metabolism; Inborn Errors of Steroid Metabolism; Steroid Metabolic Diseases, Inborn

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
  • Inborn Genetic Diseases: 11939
    • Inborn Errors Metabolism: 1162
      • Inborn Errors Steroid Metabolism: 2
        • Congenital Adrenal Hyperplasia: 2841
        • Smith-Lemli-Opitz Syndrome: 482
        • X-Linked Ichthyosis: 239
        • Antley-Bixler Syndrome Phenotype: 79
        • Familial Glucocorticoid Deficiency 1: 41
        • Apparent Mineralocorticoid Excess Syndrome: 37
        • Cortisone reductase deficiency: 30
        • Lathosterolosis: 21
        • Pseudovaginal Perineoscrotal Hypospadias: 17
        • 17-Hydroxysteroid Dehydrogenase Deficiency: 13
        • Familial Hypercholanemia: 1
        • 1 congenital Bile acid synthesis defect
        • 2 congenital Bile acid synthesis defect
        • 3 Congenital Bile Acid Synthesis Defect
        • Lyngstadaas syndrome
• Nutritional and Metabolic Diseases: 15
  • Metabolic Diseases: 10142
    • Inborn Errors Metabolism: 1162
      • Inborn Errors Steroid Metabolism: 2
        • Congenital Adrenal Hyperplasia: 2841
        • Smith-Lemli-Opitz Syndrome: 482
        • X-Linked Ichthyosis: 239
        • Antley-Bixler Syndrome Phenotype: 79
        • Familial Glucocorticoid Deficiency 1: 41
        • Apparent Mineralocorticoid Excess Syndrome: 37
        • Cortisone reductase deficiency: 30
        • Lathosterolosis: 21
        • Pseudovaginal Perineoscrotal Hypospadias: 17
        • 17-Hydroxysteroid Dehydrogenase Deficiency: 13
        • Familial Hypercholanemia: 1
        • 1 congenital Bile acid synthesis defect
        • 2 congenital Bile acid synthesis defect
        • 3 Congenital Bile Acid Synthesis Defect
        • Lyngstadaas syndrome