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.
MONDO:0019589
obsolete syndromic genetic hearing loss (obsolete MONDO:0019589)
excluded_subClassOf
MONDO:0009043
generalized resistance to thyroid hormone
is_a
MONDO:0700478
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
is_a
GRTH
related
Refetoff syndrome
related
THRB
related
thyroid hormone receptor BETA
related
thyroid hormone resistance
broad
thyroid hormone resistance syndrome
broad
thyroid hormone resistance, autosomal recessive
exact
thyroid hormone resistance, generalized, autosomal recessive
exact