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Congenital lipoid adrenal hyperplasia due to STAR deficency

Disease definition

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH; see this term) characterized by severe adrenal insufficiency and sex reversal in males.

ORPHA:90790

  • Synonym(s):
    • CLAH
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E25.0
  • OMIM: 201710
  • UMLS: C0342474
  • MeSH: C537027
  • GARD: 1465
  • MedDRA: -

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