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loading...| Preferred Name |
Thyroid Hormone Resistance Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85191 |
| code |
C85191 |
| 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 |
| Preferred_Name |
Thyroid Hormone Resistance Syndrome |
| prefixIRI |
C85191 |
| prefLabel |
Thyroid Hormone Resistance Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C2940786 |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_11633 | Human Disease Ontology 123 | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D018382 | Medical Subject Headings | LOOM |