ORPHA:289866
Disorder of proline 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 proline metabolism | |
| fr | Trouble du métabolisme de la proline | |
| de | Prolin-Stoffwechselstörung | |
| es | Trastorno del metabolismo de la prolina | |
| it | Difetto del metabolismo della prolina | |
| nl | Stoornis van prolinemetabolisme | |
| pt | Doença do metabolismo da prolina | |
| pl | Zaburzenie metabolizmu proliny | |
| cs | Porucha metabolismu prolinu | |
| uk | Порушення обміну проліну | |
| zh | 脯氨酸代谢紊乱 | |
| tr | Prolin metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C50.8 | E | specific | validated |
| MONDO | 0017355 | E | validated | |
| MONDO | 17355 | E | validated | |
| UMLS | C5681004 | 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 (1):
- ORPHA:79185Disorder of ornithine or proline metabolism
rare inborn errors of metabolism; rare genetic diseases
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/289866
- This record as JSON: /data/d/289866.json