ORPHA:206634
Genetic skeletal muscle disease
- 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 | Genetic skeletal muscle disease | |
| fr | Maladie génétique du muscle squelettique | |
| de | Genetisch bedingte Krankheit der Skelettmuskeln | |
| es | Enfermedad muscular esquelética genética | |
| it | Malattia muscolo-scheletrica genetica | |
| nl | Genetische skeletspierziekte | |
| pt | Doença do músculo esquelético genética | |
| pl | Choroba mięśni szkieletowych uwarunkowana genetycznie | |
| cs | Geneticky podmíněná muskuloskeletální onemocnění | |
| uk | Генетично обумовлене захворювання скелетних мязів | |
| zh | 遗传性骨肌肉病 | |
| tr | Genetik iskelet kası hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680800 | 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 (2):
- ORPHA:183497Genetic neuromuscular disease
rare genetic diseases - ORPHA:98472Skeletal muscle disease
rare neurological diseases
Children (11):
- ORPHA:2674Cyprus facial-neuromusculoskeletal syndrome
- ORPHA:599Distal myopathy
- ORPHA:371433Genetic periodic paralysis
- ORPHA:98473Muscular dystrophy
- ORPHA:206970Myotonic syndrome
- ORPHA:206656Non-dystrophic myopathy
- ORPHA:206976Periodic paralysis
- ORPHA:727296Progressive muscle weakness-respiratory insufficiency-learning difficulty syndrome
- ORPHA:3292Tel Hashomer camptodactyly syndrome
- ORPHA:88635Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
- ORPHA:3454Wieacker-Wolff syndrome
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/206634
- This record as JSON: /data/d/206634.json