loading...| Preferred Name | Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | |
| Synonyms |
RTHb Resistance to thyroid hormone beta Resistance to thyroid hormone due to a mutation in TRb |
|
| Definitions |
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_566243 |
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| alternative_term |
RTHb Resistance to thyroid hormone beta Resistance to thyroid hormone due to a mutation in TRb |
|
| definition |
A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=566243 |
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| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:274300 OMIM:188570 OMIM:145650 ICD-10:E07.8 |
|
| label |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
|
| notation |
ORPHA:566243 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_566243 |
|
| prefLabel |
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta |
|
| present_in |
United States AND has_birth_prevalence_average_value : 2.47 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : Unknown United States AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 2.4 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.ebi.ac.uk/efo/EFO_0700134 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0034217 | DOVES | LOOM |