ORPHA:371040
Primary qualitative or quantitative defects of alpha-dystroglycan
Synonyms: Primary alpha-dystroglycanopathy · Primary 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary qualitative or quantitative defects of alpha-dystroglycan | Primary alpha-dystroglycanopathy · Primary dystroglycanopathy |
| fr | Anomalie qualitative ou quantitative primaire de l'alpha-dystroglycane | Alpha-dystroglycanopathie primaire · Dystroglycanopathie primaire |
| de | Primäre qualitative oder quantitative Alpha-Dystroglykan-Defekte | Alpha-Dystroglykanopathie, primäre · Dystroglykanopathie, primäre |
| es | Defectos cualitativos o cuantitativos primarios del alfa-distroglicano | Alfa-distroglicanopatía primaria · Distroglicanopatía primaria |
| it | Difetti qualitativi o quantitativi primitivi dell'alfa-distroglicano | Alfa-distroglicanopatia primitiva · Distroglicanopatia primitiva |
| nl | Primaire kwalitatieve of kwantitatieve defecten van alfa-dystroglycaan | Primaire alfa-dystroglycanopathie · Primaire dystroglycanopathie |
| pt | Defeitos qualitativos ou quantitativos primários de alfa-distroglicana | |
| pl | Pierwotne jakościowe lub ilościowe defekty alfa-dystroglikanu | Dystroglikanopatia pierwotna · Pierwotna alfa-dystroglikanopatia |
| cs | Primární kvalitativní nebo kvantitativní poruchy alfa-dystroglykanu | Primární alfa-dystroglykanopatie · Primární dystroglykanopatie |
| uk | Первинні якісні або кількісні дефекти альфа-дистроглікану | Первинна альфа-дистрогліанопатія · Первинна дистрогліканопатія |
| zh | α-肌营养不良蛋白聚糖主要定性或定量缺陷 | 原发性α-肌营养不良蛋白聚糖病 |
| tr | Alfa distroglikanın primer kalitatif veya kantitatif defektleri | Primer distroglikanopati · Primer alfa-distroglikanopati |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18283 | E | validated | |
| UMLS | C5679905 | 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:371024Qualitative or quantitative defects of alpha-dystroglycan
rare genetic diseases
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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/371040
- This record as JSON: /data/d/371040.json