ORPHA:206653
Autosomal recessive distal myopathy
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- 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 | Autosomal recessive distal myopathy | |
| fr | Myopathie distale autosomique récessive | |
| de | Myopathie, distale, autosomal-rezessive | |
| es | Miopatía distal autosómica recesiva | |
| it | Miopatia distale, autosomica recessiva | |
| nl | Autosomale recessieve distale myopathie | |
| pt | Miopatia distal autossómica recessiva | |
| pl | Autosomalna recesywna miopatia dystalna | |
| cs | Autozomálně recesivní distální myopatie | |
| uk | Аутосомно-рецесивна дистальна міопатія | |
| zh | 常染色体隐性远端肌病 | |
| tr | Otozomal resesif distal miyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16109 | E | validated | |
| UMLS | C5680801 | 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:599Distal myopathy
rare genetic diseases; rare neurological diseases
Children (8):
- ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
- ORPHA:708129Autosomal recessive ACTN2-related distal myopathy
- ORPHA:399103Autosomal recessive distal nebulin myopathy
- ORPHA:399096Distal anoctaminopathy
- ORPHA:178400Distal myopathy with anterior tibial onset
- ORPHA:707983Early-onset autosomal recessive TTN-related distal myopathy
- ORPHA:602GNE myopathy
- ORPHA:45448Miyoshi myopathy
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/206653
- This record as JSON: /data/d/206653.json