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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Id | http://purl.obolibrary.org/obo/NCIT_C85191
http://purl.obolibrary.org/obo/NCIT_C85191
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|---|---|
| Preferred Name | Thyroid Hormone Resistance Syndrome |
| 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Thyroid Hormone Resistance Syndrome
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| prefLabel |
Thyroid Hormone Resistance Syndrome
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| in_subset | |
| Preferred_Name |
Thyroid Hormone Resistance Syndrome
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| UMLS_CUI |
C2937288
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| prefixIRI |
NCIT:C85191
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| Contributing_Source |
NICHD
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| subClassOf | |
| code |
C85191
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| type | |
| ALT_DEFINITION |
Reduced response to thyroid hormones in the peripheral tissues and/or in the pituitary gland.
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| Semantic_Type |
Disease or Syndrome
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