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C85191Level 6

Thyroid Hormone Resistance Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Thyroid Hormone Resistance

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