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Athyreosis

Disease definition

A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.

ORPHA:95713

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: E03.1
  • OMIM: 218700  225250
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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