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Familial thyroid dyshormonogenesis

Disease definition

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

ORPHA:95716

  • Synonym(s):
    • Thyroid dyshormonogenesis
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E03.0  E03.1
  • OMIM: 274400  274500  274700  274800  274900  607200
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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