ORPHA:309447
Disorder of protein O-glycosylation
- 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 protein O-glycosylation | |
| fr | Anomalie de la O-glycosylation | |
| de | Störung der Protein O-Glykosylierung | |
| es | Trastorno de la O-glicosilación de proteínas | |
| it | Disturbo della O-glicosilazione delle proteine | |
| nl | Stoornis van de proteïne O-glycosylatie | |
| pt | Alteração da proteína O-glicosilação | |
| pl | Zaburzenia O-glikozylacji białek | |
| cs | Poruchy O-glykosylace proteinů | |
| uk | Порушення О-глікозилювання білків | |
| zh | 蛋白O-糖基化紊乱 | |
| tr | Protein O-glikozilasyon bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C54.1 | E | specific | validated |
| MONDO | 0017741 | E | validated | |
| MONDO | 17741 | E | validated | |
| UMLS | C5681041 | 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:137Congenital disorder of glycosylation
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309447
- This record as JSON: /data/d/309447.json