ORPHA:306753
Rare 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| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disease with myoclonus as a major feature | |
| fr | Maladie rare avec myoclonie comme manifestation majeure | |
| de | Seltene Krankheit mit Myoklonie als Hauptmerkmal | |
| es | Enfermedad rara con mioclonos como característica principal | |
| it | Malattia rara con mioclonia come segno cardinale | |
| nl | Zeldzame ziekte met myoclonus als hoofdkenmerk | |
| pt | Doença rara com mioclonia como característica principal | |
| pl | Rzadka choroba, w której mioklonus jest objawem głównym | |
| cs | Vzácná onemocnění s myoklonem jako hlavním příznakem | |
| uk | Рідкісне захворювання, основною ознакою якого є міоклонус | |
| zh | 肌阵挛为主的罕见病 | |
| tr | Esas klinik özelliği miyoklonus olan nadir hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17652 | E | validated | |
| UMLS | C5681053 | E | validated |
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):
- ORPHA:306747Rare myoclonus
rare neurological diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306753
- This record as JSON: /data/d/306753.json