loading...| Preferred Name |
Thyroid Hormone Resistance Syndrome |
|
| Synonyms |
Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance |
|
| Definitions |
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. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85191 |
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| ALT_DEFINITION |
Reduced response to thyroid hormones in the peripheral tissues and/or in the pituitary gland. |
|
| code |
C85191 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
|
| 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. |
|
| FULL_SYN |
Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance |
|
| label |
Thyroid Hormone Resistance Syndrome |
|
| Preferred_Name |
Thyroid Hormone Resistance Syndrome |
|
| prefixIRI |
Thesaurus:C85191 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C2937288 |
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| subClassOf |