ORPHA:98099
Autosomal recessive syndromic 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 syndromic cerebellar ataxia | |
| fr | Ataxie cérébelleuse autosomique récessive syndromique | |
| de | Ataxie, zerebelläre, autosomal-rezessive, syndromale | |
| es | Ataxia cerebelosa sindrómica autosómica recesiva | |
| it | Atassia cerebellare sindromica, autosomica recessiva | |
| nl | Autosomaal recessieve syndromale cerebellaire ataxie | |
| pt | Ataxia cerebelosa sindromática autossómica recessiva | |
| pl | Autosomalna recesywna syndromiczna ataksja możdżkowa | |
| cs | Autozomálně recesivní syndromické cerebelární ataxie | |
| uk | Аутосомно-рецесивна синдромальна мозочкова атаксія | |
| zh | 常染色体隐性遗传综合性小脑共济失调 | |
| tr | Otozomal resesif sendromik serebellar ataksi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020047 | E | validated | |
| UMLS | C5681516 | 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:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- ORPHA:459033Ataxia-oculomotor apraxia type 4
- ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndrome
- ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- ORPHA:2074Gemignani syndrome
- ORPHA:715623Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy 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/98099
- This record as JSON: /data/d/98099.json