ORPHA:308407
Disorder of beta and omega amino acid metabolism
- 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 | Disorder of beta and omega amino acid metabolism | |
| fr | Trouble du métabolisme des acides aminés bêta et oméga | |
| de | Störung des beta- und omega-Aminosäuren-Stoffwechsels | |
| es | Trastornos del metabolismo de los aminoácidos beta y omega | |
| it | Difetto del metabolismo dei gamma e beta-aminoacidi | |
| nl | Stoornis van metabolisme van bèta- en omega-aminozuren | |
| pt | Alterações do metabolismo dos aminoácidos beta e omega | |
| pl | Zaburzenie metabolizmu aminokwasów beta i omega | |
| cs | Poruchy metabolismu beta a omega aminokyselin | |
| uk | Порушення обміну бета- та омега-амінокислот | |
| zh | β和ω氨基酸代谢障碍 | |
| tr | Beta ve omega amino asit metabolizması bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C50.C | E | specific | validated |
| MONDO | 0017684 | E | validated | |
| MONDO | 17684 | E | validated | |
| UMLS | C0342707 | 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:79062Disorder of amino acid and other organic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
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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/308407
- This record as JSON: /data/d/308407.json