loading...| Preferred Name |
Thyroid Hormone Resistance Syndrome |
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| Synonyms |
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| 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://purl.obolibrary.org/obo/NCIT_C85191 |
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| ALT_DEFINITION |
Reduced response to thyroid hormones in the peripheral tissues and/or in the pituitary gland. |
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| code |
C85191 |
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| Contributing_Source |
NICHD |
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| 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. |
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| in_subset | ||
| label |
Thyroid Hormone Resistance Syndrome |
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| Preferred_Name |
Thyroid Hormone Resistance Syndrome |
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| prefixIRI |
NCIT:C85191 |
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| prefLabel |
Thyroid Hormone Resistance Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C2937288 |
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| subClassOf |