ORPHA:306756

Epilepsy and/or ataxia with myoclonus as a major feature

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Epilepsy and/or ataxia with myoclonus as a major feature
fr	Epilepsie et/ou ataxie avec myoclonie comme manifestation majeure
de	Epilepsie und/oder Ataxie mit Myoklonie als Hauptmerkmal
es	Epilepsia y/o ataxia con mioclonos como característica principal
it	Epilessia e/o atassia con mioclonia come segno cardinale
nl	Epilepsie en/of ataxie met myoclonus als hoofdkenmerk
pt	Epilepsia e/ou ataxia com mioclonia como característica principal
pl	Padaczka i(lub) ataksja, w której mioklonus jest objawem głównym
cs	Epilepsie a/nebo ataxie s myoklonem jako hlavním příznakem
uk	Епілепсія та/або атаксія з міоклонусом як основною ознакою
zh	肌阵挛为主的癫痫和/或共济失调
tr	Esas klinik özelliği miyoklonus olan epilepsi ve/veya ataksi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17653	E		validated
UMLS	C5681050	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:306753Rare disease with myoclonus as a major feature
rare neurological diseases
ORPHA:307067Rare genetic disease with myoclonus as a major feature
rare genetic diseases

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/306756
This record as JSON: /data/d/306756.json