ORPHA:98095
Autosomal recessive congenital cerebellar ataxia
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 recessive congenital cerebellar ataxia | |
| fr | Ataxie cérébelleuse congénitale autosomique récessive | |
| de | Ataxie, zerebelläre, autosomal-rezessive, kongenitale | |
| es | Ataxia cerebelosa congénita autosómica recesiva | |
| it | Atassia cerebellare congenita, autosomica recessiva | |
| nl | Autosomaal recessieve congenitale cerebellaire ataxie | |
| pt | Ataxia cerebelosa congénita autossómica recessiva | |
| pl | Autosomalna recesywna wrodzona ataksja możdżkowa | |
| cs | Autozomálně recesivní vrozené cerebelární ataxie | |
| uk | Аутосомно-рецесивна вроджена мозочкова атаксія | |
| zh | 常染色体隐性遗传先天性小脑共济失调 | |
| tr | Otozomal resesif doğumsal serebellar ataksi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020043 | E | validated | |
| UMLS | C5681519 | 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:1172Autosomal recessive cerebellar ataxia
rare genetic diseases; rare neurological diseases
Children (7):
- ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3
- ORPHA:83472CAMOS syndrome
- ORPHA:94122Cerebellar ataxia, Cayman type
- ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
- ORPHA:1766Dysequilibrium syndrome
- ORPHA:140874Joubert syndrome
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/98095
- This record as JSON: /data/d/98095.json