- Concept UI
- M0027608
- Scope Note
- An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.
- Terms
-
Thyroid Hormone Resistance Syndrome
Preferred Term
Term UI
T054812
Date01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1995)
-
Refetoff Syndrome
Term UI
T054814
Date09/08/1993
LexicalTag
EPO
ThesaurusID
-
Refetoff-DeWind-DeGroot Syndrome
Term UI
T054810
Date09/08/1993
LexicalTag
EPO
ThesaurusID
NLM (1995)