loading...| Preferred Name | Thyroid Hormone Resistance Syndrome [Disease/Finding] | |
| Synonyms |
Refetoff-DeWind-DeGroot Syndrome Refetoff Syndrome Generalized Resistance to Thyroid Hormone Generalized Thyroid Hormone Resistance Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003809 |
|
| altLabel |
Refetoff-DeWind-DeGroot Syndrome Refetoff Syndrome Generalized Resistance to Thyroid Hormone Generalized Thyroid Hormone Resistance Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance |
|
| cui |
C2940786 |
|
| MESH DEFINITION |
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. |
|
| MESH DUI |
D018382 |
|
| MeSH name |
Thyroid Hormone Resistance Syndrome |
|
| MESH UI |
M0027608 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003809 |
|
| NUI |
N0000003809 |
|
| prefLabel |
Thyroid Hormone Resistance Syndrome [Disease/Finding] |
|
| SNOMED CID |
111567006 50375007 237560005 237559000 |
|
| tui |
T047 |
|
| subClassOf |