ORPHA:522506
Rare genetic brainstem or cerebellar disorder with ophthalmic involvement 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 genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature | |
| fr | Maladie génétique du tronc cérébral ou cervelet avec atteinte ophtalmique comme manifestation majeure | |
| de | Seltene genetische Krankheit des Hirnstamms oder Kleinhirns mit Augenbeteiligung als Hauptmerkmal | |
| es | Trastorno genético raro del tronco cerebral o del cerebelo con afectación oftalmológica como característica principal | |
| it | Malattia genetica rara del tronco o del cervelletto con coinvolgimento oculare quale segno maggiore | |
| nl | Zeldzame genetische aandoening van hersenstam of cerebellum met oftalmische betrokkenheid als hoofdkenmerk | |
| pt | Doença cerebelosa ou do tronco cerebral genética rara com envolvimento oftalmológico como característica principal | |
| pl | Rzadka choroba pnia mózgu lub móżdżku uwarunkowana genetycznie, w przebiegu której dominują objawy okulistyczne | |
| cs | Vzácná genetická porucha mozku nebo mozečku s očním postižením jako hlavním příznakem | |
| uk | Рідкісне генетично обумовлене захворювання стовбура головного мозку або мозочка, основною ознакою якого є офтальмологічне ураження | |
| zh | 以眼球受累为主要特征的罕见遗传性脑干或小脑疾病 | |
| tr | Esas klinik özelliği oftalmik tutulum olan nadir genetik beyin sapı veya serebellar bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681438 | 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:183616Genetic neuro-ophthalmological disease
rare genetic diseases
Children (15):
- ORPHA:99027Adult-onset autosomal dominant leukodystrophy
- ORPHA:1168Ataxia-oculomotor apraxia type 1
- ORPHA:100Ataxia-telangiectasia
- ORPHA:233Duane retraction syndrome
- ORPHA:529574Duane retraction syndrome with congenital deafness
- ORPHA:95Friedreich ataxia
- ORPHA:79255GM1 gangliosidosis type 1
- ORPHA:79256GM1 gangliosidosis type 2
- ORPHA:77261Gaucher disease type 3
- ORPHA:140874Joubert syndrome
- ORPHA:702Pelizaeus-Merzbacher disease
- ORPHA:98755Spinocerebellar ataxia type 1
- ORPHA:98756Spinocerebellar ataxia type 2
- ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2
- ORPHA:98687Supranuclear eye movement disorder
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/522506
- This record as JSON: /data/d/522506.json