Familial hyperthyroidism due to mutations in TSH receptor

MONDO:0012203

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

Also known as: familial non-immune hyperthyroidism, resistance to thyroid stimulating hormone, Nonautoimmune hyperthyroidism, hyperthyroidism, NONAUTOIMMUNE, hyperthyroidism, Nonautoimmune, autosomal dominant, hyperthyroidism, congenital Nonautoimmune, toxic thyroid hyperplasia, autosomal dominant

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