raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:307067

Rare genetic disease 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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enRare genetic disease with myoclonus as a major feature
frMaladie génétique rare avec myoclonie comme manifestation majeure
deSeltene genetisch bedingte Krankheit mit Myoklonus als Hauptmerkmal
esEnfermedad genética rara con mioclonos como característica principal
itMalattia genetica rara con mioclonia come segno cardinale
nlZeldzame genetische ziekte met myoclonus als hoofdkenmerk
ptDoença genética rara com mioclonia como característica principal
plRzadka choroba genetyczna, której głównym objawem jest mioklonus
csVzácná geneticky podmíněná onemocnění s myoklonem jako hlavním příznakem
ukРідкісне генетично обумовлене захворювання, основною ознакою якого є міоклонус
zh肌阵挛为主的罕见遗传病
trEsas klinik özelliği miyoklonus olan nadir genetik hastalık
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO17665Evalidated
UMLSC5681057Evalidated

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