ORPHA:370953
Congenital muscular dystrophy due to dystroglycanopathy
Synonyms: CMD due to 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 | Congenital muscular dystrophy due to dystroglycanopathy | CMD due to dystroglycanopathy |
| fr | Dystrophie musculaire congénitale due à une dystroglycanopathie | CMD due à une dystroglycanopathie · DMC due à une dystroglycanopathie |
| de | Kongenitale Muskeldystrophie durch Dystroglykanopathie | CMD durch Dystroglykanopathie |
| es | Distrofia muscular congénita por una distroglicanopatía | CMD por una distroglicanopatía |
| it | Distrofia muscolare congenita da distroglicanopatia | CMD da distroglicanopatia |
| nl | Congenitale spierdystrofie door dystroglycanopathie | CMD door dystroglycanopathie |
| pt | Distrofia muscular congénita por distroglicanopatia | |
| pl | Wrodzona dystrofia mięśniowa z powodu dystroglikanopatii | CMD z powodu dystroglikanopatii |
| cs | Vrozená svalová dystrofie způsobená dystroglykanopatií | CMD způsobená dystroglykanopatií |
| uk | Вроджена мязова дистрофія, зумовлена дистрогліканопатією | ВМД через дистрогліанопатію |
| zh | 营养不良性糖病所致先天性肌营养不良 | 抗肌萎缩相关糖蛋白病所致CMD |
| tr | Distroglikanopatiye bağlı doğumsal kas distrofisi | Distroglikanopatiye bağlı CMD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18276 | E | validated | |
| UMLS | C5679911 | 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:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases
Children (6):
- ORPHA:352687Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
- ORPHA:370959Congenital muscular dystrophy with cerebellar involvement
- ORPHA:370968Congenital muscular dystrophy with intellectual disability
- ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:370980Congenital muscular dystrophy without intellectual disability
- ORPHA:263494DPM3-CDG
Codes that Orphanet moved or referred to this one:
- ORPHA:52428Congenital muscular dystrophy type 1C moved to · inactive
- ORPHA:98894Congenital muscular dystrophy type 1D moved to · inactive
- ORPHA:329206OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome referred to · inactive
- ORPHA:363629OBSOLETE: GMPPB-related congenital muscular dystrophy referred to · inactive
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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/370953
- This record as JSON: /data/d/370953.json