Thyroid hormone resistance, generalized, autosomal recessive

MONDO:0010131

A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.

Also known as: thyroid hormone resistance, thyroid hormone resistance syndrome, thyroid hormone resistance, autosomal recessive, thyroid hormone resistance, generalized, autosomal recessive, GRTH, Gthr, Refetoff syndrome, THRB

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