loading...| Preferred Name |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
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| Synonyms |
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| Definitions |
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_0700134 |
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| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
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| database_cross_reference |
Orphanet:566243 |
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| definition |
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. |
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| label |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
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| preferred label |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
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| prefixIRI |
efo1:EFO_0700134 |
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| prefLabel |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0034217 | DOVES | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_566243 | ORDO | LOOM |