ORPHA:316235
Autosomal dominant spastic ataxia
Synonyms: AD-SPAX
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- 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 | Autosomal dominant spastic ataxia | AD-SPAX |
| fr | Ataxie spastique autosomique dominante | = en |
| de | Spastische Ataxie, autosomal-dominante | = en |
| es | Ataxia espástica autosómica dominante | = en |
| it | Atassia spastica autosomica dominante | = en |
| nl | Autosomaal dominante spastische ataxie | = en |
| pt | Ataxia espástica autossómica dominante | = en |
| pl | Autosomalna dominująca ataksja spastyczna | = en |
| cs | Autozomálně dominantní spastická ataxie | = en |
| uk | Аутосомно-домінантна спастична атаксія | = en |
| zh | 常染色体显性遗传痉挛性共济失调 | 常染色体显性SPAX |
| tr | Otozomal dominant spastik ataksi | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017846 | E | validated | |
| MONDO | 17846 | E | validated | |
| UMLS | C5679899 | 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:316226Spastic ataxia
rare genetic diseases; 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/316235
- This record as JSON: /data/d/316235.json