ORPHA:519341
Rare 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature | |
| fr | Maladie du tronc cérébral ou cervelet avec atteinte ophtalmique comme manifestation majeure | |
| de | Seltene Krankheit des Hirnstamms oder Kleinhirns mit Augenbeteiligung als Hauptmerkmal | |
| es | Trastorno raro del tronco cerebral o del cerebelo con afectación oftalmológica como característica principal | |
| it | Patologia rara del tronco o del cervelletto con coinvolcimento oculare quale segno maggiore | |
| nl | Zeldzame aandoening van hersenstam of cerebellum met betrokkenheid van oog als hoofdkenmerk | |
| pt | Doença cerebelosa ou do tronco cerebral rara com envolvimento oftalmológico com característica principal | |
| pl | Rzadka choroba pnia mózgu lub móżdżku, w przebiegu której dominują objawy okulistyczne | |
| cs | Vzácná porucha mozkového kmene nebo mozečku s očním postižením jako hlavním příznakem | |
| uk | Рідкісне захворювання стовбура мозку або мозочка з офтальмологічним ураженням як основною ознакою | |
| zh | 以眼球受累为主要特征的罕见脑干或小脑病变 | |
| tr | Esas klinik özelliği oftalmik tutulum olan nadir beyin sapı veya serebellar bozukluk |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681359 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:140653Neuro-ophthalmological disease
rare ophthalmic disorders
Children (17):
- 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:1183Opsoclonus-myoclonus syndrome
- ORPHA:702Pelizaeus-Merzbacher disease
- ORPHA:279882Spasmus nutans
- ORPHA:98755Spinocerebellar ataxia type 1
- ORPHA:98756Spinocerebellar ataxia type 2
- ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2
- ORPHA:98687Supranuclear eye movement disorder
Codes that Orphanet moved or referred to this one:
- ORPHA:98693OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly referred to · inactive
- ORPHA:98694OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/519341
- This record as JSON: /data/d/519341.json