raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98739

Neurological muscular channelopathy due to a genetic chloride channel defect

Type
Category
Group
Group of disorders
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enNeurological muscular channelopathy due to a genetic chloride channel defect
frCanalopathie neurologique génétique associée au canal chlore musculaire
deIonenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Chloridkanaldefekt
esCanalopatía neurológica muscular por un defecto genético del canal de cloruro
itCanalopatia neurologica genetica da difetto genetico del canale del cloro
nlNeurologische musculaire kanalopathie door een genetisch chloridekanaaldefect
ptCanalopatia neurológica muscular por anomalia do canal de cloro genética
plNeurologiczna kanałopatia mięśniowa z powodu genetycznego defektu kanału chlorowego
csNeurologická svalová kanálopatie způsobená genetickou poruchou chloridového kanálu
ukНеврологічна мязова каналопатія внаслідок генетичного дефекту хлоридних каналів
zh遗传性氯通道缺陷所致神经肌肉离子通道病
trGenetik klorür kanalı defektine bağlı nörolojik kas kanalopati
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0957112Evalidated
UMLSC5681687Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (1):

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.

7

Sources for this card