ORPHA:207052
Qualitative or quantitative defects of sarcoglycan
Synonyms: Sarcoglycanopathy
- 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 | Qualitative or quantitative defects of sarcoglycan | Sarcoglycanopathy |
| fr | Anomalie qualitative ou quantitative des sarcoglycanes | Sarcoglycanopathie |
| de | Sarkoglycan, qualitative oder quantitative Defekte | Sarkoglykanopathie |
| es | Anomalías cualitativas o cuantitativas de sarcoglicanos | Sarcoglicanopatía |
| it | Alterazioni qualitative o quantitative dei sarcoglicani | Sarcoglicanopatia |
| nl | Kwalitatieve of kwantitatieve defecten van sarcoglycaan | Sarcoglycanopathie |
| pt | Deficiências qualitativas ou quantitativas de sarcoglicano | |
| pl | Defekt jakościowy lub ilościowy sarkoglikanu | Sarkoglikanopatia |
| cs | Kvalitativní nebo kvantitativní defekty sarkoglykanu | Sarkoglykanopatie |
| uk | Якісні або кількісні дефекти саркоглікану | Саркогліканопатія |
| zh | 肌聚糖的定性或定量缺陷 | 肌聚糖蛋白病 |
| tr | Sarkoglikanın kalitatif veya kantitatif defekt | Sarkoglikanopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16140 | E | validated | |
| MeSH | D058088 | E | validated | |
| UMLS | C2936331 | E | validated | |
| MedDRA | 10083931 | 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:207049Qualitative or quantitative protein defects in neuromuscular diseases
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/207052
- This record as JSON: /data/d/207052.json