thyroid hormone resistance, generalized, autosomal recessive (Q55998746)

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.

Thyroid Hormone Unresponsiveness
GRTH
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
Gthr
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH
Refetoff Syndrome

Language	Label	Description	Also known as
English	thyroid hormone resistance, generalized, autosomal recessive	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.	Thyroid Hormone Unresponsiveness GRTH THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE Gthr THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE; GRTH Refetoff Syndrome