ORPHA:207063
Qualitative or quantitative defects of beta-sarcoglycan
- 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 | Qualitative or quantitative defects of beta-sarcoglycan | |
| fr | Anomalie qualitative ou quantitative du bêta-sarcoglycane | |
| de | Beta-Sarkoglycan, qualitative oder quantitative Defekte | |
| es | Anomalías cualitativas o cuantitativas de beta-sarcoglicano | |
| it | Deficit qualitativi o quantitativi di beta-sarcoglicano | |
| nl | Kwalitatieve of kwantitatieve defecten van bèta-sarcoglycaan | |
| pt | Deficiências qualitativas ou quantitativas do beta-sarcoglicano | |
| pl | Defekt jakościowy lub ilościowy beta-sarkoglikanu | |
| cs | Kvalitativní nebo kvantitativní defekty beta-sarkoglykanu | |
| uk | Якісні або кількісні дефекти бета-саркоглікану | |
| zh | β-肉聚糖的定性或定量缺陷 | |
| tr | Beta sarkoglikanın kalitatif veya kantitatif defekt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016142 | E | validated | |
| MONDO | 16142 | E | validated | |
| UMLS | C5680809 | 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:207052Qualitative or quantitative defects of sarcoglycan
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/207063
- This record as JSON: /data/d/207063.json