raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98115

OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly

inactive · referred to ORPHA:614Thomsen and Becker disease

Type
Category
Group
Group of disorders
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.<br/><br/>Instead, consider using Thomsen and Becker disease

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Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly
frOBSOLETE : 'Canalopathie non ''pore loop'' due à un défaut du canal chlorure du muscle squelettique Clc1'
deOBSOLET: Ionenkanalkrankheit bei skeletomuskulärem ClC1-Chloridkanaldefekt
esOBSOLETO: Canalopatía 'non-pore-loop' por una anomalía del canal de Cl- del músculo esquelético Clc1
itOBSOLETO: Canalopatia da difetti del canale del cloro CLC-1 nei muscoli scheletrici
nlOBSOLEET: Non-pore-loop-kanalopathie als gevolg van Cl-kanaal skeletspier Clc1-anomalie
ptOBSOLETO: Canalopatia não-"pore-loop" por anomalia do canal de cloro do músculo esquelético Clc1
plNIEAKTUALNE: Defekt kanalów nie posiadajacych petli z powodu anomalii kanalu chlorkowego Clc1 w miesniach szkieletowych
csNEAKTUÁLNÍ: Non-pore-loop kanalopatie způsobená Clc1 anomálií Cl- kanálů příčně pruhovaných svalů
ukЗАСТАРІЛО: Каналопатія без порової петлі, зумовлена аномалією Cl- каналу скелетних мязів Clc1
zh弃用:氯离子通道骨骼肌Clc1亚型异常所致非孔-环离子通道病
trEski adı: Cl- kanal iskelet kası Clc1 anomalisine bağlı gözenek dışı kanal kanalatiği
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Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

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Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

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Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

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Sources for this card