raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:391799

Rare genetic dystonia

Synonyms: Rare genetic dystonic disorder

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 dystoniaRare genetic dystonic disorder
frDystonie génétique rare
deSeltene genetisch bedingte DystonieSeltene genetisch dystonische Störung
esDistonía genética raraTrastorno distónico genético raro
itDistonia genetica raraMalattia distonica genetica rara
nlZeldzame genetische dystonieZeldzame genetische dystonische stoornis
ptDistonia genética rara
plRzadka dystonia genetycznaRzadkie genetyczne zaburzenie dystoniczne
csVzácná geneticky podmíněná dystonieVzácná geneticky podmíněná dystonická porucha
ukРідкісна генетично обумовлена дистоніяРідкісне генетичне дистонічне захворювання
zh罕见遗传性肌张力障碍罕见遗传性肌张力低下
trNadir genetik distoniNadir genetik distonik bozukluk
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5680022Evalidated

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 (3):

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