ORPHA:231537
Hermansky-Pudlak syndrome type 8
inactive · moved to ORPHA:231531Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Synonyms: HPS8
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hermansky-Pudlak syndrome type 8 | HPS8 |
| fr | Syndrome de Hermansky-Pudlak type 8 | HPS8 · SHP8 |
| de | Hermansky-Pudlak-Syndrom Typ 8 | = en |
| es | Síndrome de Hermansky-Pudlak tipo 8 | = en |
| it | Sindrome di Hermansky-Pudlak, tipo 8 | = en |
| nl | Syndroom van Hermansky-Pudlak type 8 | = en |
| pt | Síndrome de Hermansky-Pudlak tipo 8 | |
| pl | Zespół Hermansky'ego i Pudlaka typu 8 | = en |
| cs | Heřmanského-Pudlákův syndrom, typ 8 | HPS8 · Heřmansky-Pudlákův syndrom, typ 8 |
| uk | Синдром Германського-Пудлака, тип 8 | = en |
| zh | 赫曼斯基-普德拉克综合征8型 | = en |
| tr | Hermansky-Pudlak sendromu tip 8 | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614077 | 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.
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Genes
0 directOrphanet records no gene directly on this code.
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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/231537
- This record as JSON: /data/d/231537.json