ORPHA:309810
Disorder of peroxisomal alpha-, beta- and omega-oxidation
- 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 | Disorder of peroxisomal alpha-, beta- and omega-oxidation | |
| fr | Anomalie de l'alpha-, bêta- et oméga-oxydation peroxysomales | |
| de | Störung der peroxisomalen Alpha-, Beta- und Omegaoxidation | |
| es | Trastornos de la alfa-, beta- y omega- oxidación peroxisomal | |
| it | Difetto di alfa-, beta- e omega-ossidazione | |
| nl | Stoornis van peroxisomale alfa-, bèta- en omega-oxidatie | |
| pt | Alteração da oxidação peroxissomal alfa, beta e ómega | |
| pl | Zaburzenia peroksymalnej alfa-, beta- i omega- oksydacji | |
| cs | Poruchy peroxisomální alfa-, beta- a omega-oxidace | |
| uk | Порушення пероксисомного альфа-, бета- та омега-окислення | |
| zh | α-，β-，ω-过氧化物酶氧化紊乱 | |
| tr | Peroksizomal alfa, beta ve omega-oksidasyon bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C57.1 | E | specific | validated |
| MONDO | 17753 | E | validated | |
| UMLS | C5681040 | E | validated | |
| GARD | 12476 | 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 (2):
- ORPHA:68373Peroxisomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders
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/309810
- This record as JSON: /data/d/309810.json