ORPHA:2981
Pseudo-Zellweger syndrome
inactive · moved to ORPHA:300Bifunctional enzyme deficiency
Synonyms: Thiolase deficiency
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bifunctional enzyme deficiency
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudo-Zellweger syndrome | Thiolase deficiency |
| fr | Syndrome pseudo-Zellweger | Déficit en thiolase |
| de | Pseudo-Zellweger-Syndrom | Thiolase-Mangel |
| es | Síndrome de pseudo-Zellweger | |
| it | Sindrome pseudo-Zellweger | Deficit di tiolasi |
| nl | Pseudo-Zellweger-syndroom | Thiolasedeficiëntie |
| pt | Síndrome pseudo-Zellweger | Deficiência de tiolase |
| pl | Zespół pseudo-Zellwegera | Niedobór tiolazy |
| cs | Pseudo-Zellwegerův syndrom | Deficit thiolázy |
| uk | Синдром псевдо-Цельвегера | Дефіцит тіолази |
| zh | Pseudo-Zellweger 综合征 | 硫解酶缺乏症 |
| tr | Psödo-Zellweger sendromu | Tiyolaz eksikliği |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MeSH | C535818 | E | validated | |
| UMLS | C1533628 | 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/2981
- This record as JSON: /data/d/2981.json