raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98125

OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect

inactive · referred to ORPHA:98784Sleep-related hypermotor epilepsy

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 Autosomal dominant nocturnal frontal lobe epilepsy

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect
frOBSOLETE : Canalopathie associée à un défaut du recepteur neuronal à l'acétylcholine
deOBSOLET: Ionenkanalkrankheit bei neuronalem ACh-Rezeptordefekt
esOBSOLETO: Canalopatía por un defecto del receptor de acetilcolina neuronal
itOBSOLETO: Canalopatia da difetti del recettore neuronale Ach
nlOBSOLEET: Kanalopathie als gevolg van een neuronaal acetylcholinereceptordefect
ptOBSOLETO: Canalopatia por defeito do recetor da acetilcolina neuronal
plNIEAKTUALNE: Kanalopatia z powodu defektu neuronalnego receptora acetylocholiny
csNEAKTUÁLNÍ: Kanalopatie způsobená poruchou neuronálních acetylcholinových receptorů
ukЗАСТАРІЛО: Каналопатія внаслідок дефекту ацетилхолінових рецепторів нейронів
zh弃用:神经元乙酰胆碱受体缺陷离子通道病
trEski adı: Nöronal asetilkolin reseptör defektine bağlı kanal gelişimi
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Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

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