ORPHA:166068
Pontocerebellar hypoplasia type 5
inactive · moved to ORPHA:166063Pontocerebellar hypoplasia type 4
Synonyms: PCH5 · Fetal-onset olivopontocerebellar hypoplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pontocerebellar hypoplasia type 4
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pontocerebellar hypoplasia type 5 | PCH5 · Fetal-onset olivopontocerebellar hypoplasia |
| fr | Hypoplasie pontocérébelleuse type 5 | HPC5 · Hypoplasie olivopontocérébelleuse foetale · PCH5 |
| de | Pontozerebelläre Hypoplasie Typ 5 | Olivopontozerebellärer Hypoplasie, fötale · PCH5 |
| es | Hipoplasia pontocerebelosa tipo 5 | HPC5 · Hipoplasia olivopontocerebelosa de inicio fetal |
| it | Ipoplasia pontocerebellare, tipo 5 | Ipoplasia olivo-ponto-cerebellare a esordio fetale · PCH5 |
| nl | Pontocerebellaire hypoplasie type 5 | Olivopontocerebellaire hypoplasie met foetale aanvang · PCH5 |
| pt | Hipoplasia pontocerebelosa tipo 5 | Hipoplasia olivopontocerebelosa de início fetal |
| pl | Hipoplazja mostowo-móżdżkowa typu 5 | Hipoplazja oliwkowo-mostowo-móżdżkowa o początku w życiu płodowym · PCH5 |
| cs | Pontocerebelární hypoplázie, typ 5 | Olivopontocerebelární hypoplázie s prenatálním nástupem · PCH5 |
| uk | Понтоцеребеллярна гіпоплазія тип 5 | Внутрішньоутробна оливопонтоцеребеллярна гіпоплазія · PCH5 |
| zh | 桥脑小脑发育不全5型 | 胎儿起病的橄榄体脑桥小脑发育不良 |
| tr | Pontoserebellar hipoplazi tip 5 | PCH5 · Fetal başlangıçlı olivopontocerebellar hipoplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610204 | E | validated | |
| UMLS | C1857762 | E | validated | |
| GARD | 10709 | 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
Not placed in any Orphanet classification in this release.
No children.
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166068
- This record as JSON: /data/d/166068.json