ORPHA:371024
Qualitative or quantitative defects of alpha-dystroglycan
Synonyms: Alpha-dystroglycanopathy · Dystroglycanopathy
- 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 alpha-dystroglycan | Alpha-dystroglycanopathy · Dystroglycanopathy |
| fr | Anomalie qualitative ou quantitative de l'alpha-dystroglycane | Alpha-dystroglycanopathie · Dystroglycanopathie |
| de | Alpha-Dystroglykan, qualitative oder quantitative Defekte | Alpha-Dystroglykanopathie · Dystroglykanopathie |
| es | Defectos cualitativos o cuantitativos del alfa-distroglicano | Alfa-distroglicanopatía · Distroglicanopatía |
| it | Difetti qualitativi o quantitativi dell'alfa-distroglicano | Alfa-distroglicanopatia · Distroglicanopatia |
| nl | Kwalitatieve of kwantitatieve defecten van alfa-dystroglycaan | Alfa-dystroglycanopathie · Dystroglycanopathie |
| pt | Defeitos qualitativos ou quantitativos de alfa-distroglicana | |
| pl | Jakościowe lub ilościowe defekty alfa-dystroglikanu | Alfa-dystroglikanopatia · Dystroglikanopatia |
| cs | Kvalitativní nebo kvantitativní poruchy alfa-dystroglykanu | Alfa-dystroglykanopatie · Dystroglykanopatie |
| uk | Якісні або кількісні дефекти альфа-дистроглікану | Альфа-дистрогліканопатія · Дистрогліканопатія |
| zh | α-肌营养不良蛋白聚糖定性或定量缺陷 | α-肌营养不良蛋白聚糖病 |
| tr | Alfa distroglikanın kalitatif veya kantitatif defektleri | Distroglikanopati · Alfa-distroglikanopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018282 | E | validated | |
| MONDO | 18282 | E | validated | |
| UMLS | C2936406 | 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:207049Qualitative or quantitative protein defects in neuromuscular diseases
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/371024
- This record as JSON: /data/d/371024.json