ORPHA:3221
Generalized resistance to thyroid hormone
inactive · moved to ORPHA:566243Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Synonyms: Deafness-thyroid hormone resistance syndrome · Hearing loss-thyroid hormone resistance syndrome · Refetoff syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized resistance to thyroid hormone | Deafness-thyroid hormone resistance syndrome · Hearing loss-thyroid hormone resistance syndrome · Refetoff syndrome |
| fr | Résistance généralisée aux hormones thyroïdiennes | Syndrome de Refetoff |
| de | Generalisierte Resistenz gegen Schilddrüsenhormone | Refetoff-Syndrom · Schwerhörigkeit - Resistenz gegen Schilddrüsenhormone |
| es | Resistencia generalizada a la hormona tiroidea | Síndrome de hipoacusia-resistencia a la hormona tiroidea · Síndrome de sordera-resistencia a la hormona tiroidea |
| it | Resistenza generalizzata all'ormone tiroideo | Sindrome di Refetoff · Sordità - resistenza all'ormone tiroideo |
| nl | Gegeneraliseerde resistentie tegen schildklierhormoon | Doofheid - schildklierhormoonresistentie-syndroom · Gehoorverlies - schildklierhormoonresistentie-syndroom · Syndroom van Refetoff |
| pt | Resistência à hormona tiroideia generalizada | Síndrome Refetoff · Síndrome de perda auditiva-resistência à hormona tiroideia |
| pl | Uogólniona oporność na hormony tarczycy | Głuchota - oporność na hormony tarczycy · Zespół Refetoffa |
| cs | Generalizovaná rezistence vůči thyreoidálním hormonům | Syndrom zahrnující hluchotu a rezistenci vůči thyreoidálním hormonům · Refetoffův syndrom |
| uk | Генералізована резистентність до гормонів щитовидної залози | Синдром глухоти - резистентності до гормонів щитовидної залози · Синдром резистентності до гормонів щитовидної залози та втрата слуху · Синдром Рефетова |
| zh | 全身性甲状腺激素抵抗 | 听力丧失-甲状腺激素抵抗综合征 |
| tr | Tiroid hormonuna jeneralize direnç | Refetoff sendromu · Sağırlık-tiroid hormonu direnci sendromu · İşitme kaybı-tiroid hormonu direnci sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| GARD | 301 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3221
- This record as JSON: /data/d/3221.json