ORPHA:98097
Autosomal recessive cerebellar ataxia due to a DNA repair defect
- 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 cerebellar ataxia due to a DNA repair defect | |
| fr | Ataxie cérébelleuse autosomique récessive due à une anomalie de réparation de l'ADN | |
| de | Zerebelläre Ataxie, autosomal-rezessive, durch DNA-Reparaturdefekt | |
| es | Ataxia cerebelosa autosómica recesiva por un defecto de reparación del ADN | |
| it | Atassia cerebellare, autosomica recessiva, da difetti nel riparo di DNA | |
| nl | Autosomaal recessieve cerebellaire ataxie als gevolg van een DNA-hersteldefect | |
| pt | Ataxia cerebelosa autossómica recessiva por defeito na reparação do ADN | |
| pl | Autosomalna recesywna ataksja możdżkowa z powodu defektu naprawy DNA | |
| cs | Autozomálně recesivní cerebelární ataxie způsobená poruchou reparace DNA | |
| uk | Аутосомно-рецесивна мозочкова атаксія внаслідок дефекту репарації ДНК | |
| zh | DNA修复缺陷所致常染色体隐性遗传小脑共济失调 | |
| tr | DNA onarım defektine bağlı otozomal resesif serebellar ataksi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.3 | E | specific | validated |
| UMLS | C5681518 | 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 (8):
- ORPHA:1168Ataxia-oculomotor apraxia type 1
- ORPHA:100Ataxia-telangiectasia
- ORPHA:251347Ataxia-telangiectasia-like disorder
- ORPHA:420741RIDDLE syndrome
- ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1
- ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2
- ORPHA:910Xeroderma pigmentosum
- ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex
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/98097
- This record as JSON: /data/d/98097.json