ORPHA:207094
Laminin subunit alpha 2-related muscular dystrophy
Synonyms: LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin
- 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 | Laminin subunit alpha 2-related muscular dystrophy | LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin |
| fr | Dystrophie musculaire liée à la sous-unité alpha 2 de la laminine | Anomalie qualitative ou quantitative de la mérosine · Dystrophie musculaire associée à LAMA2 |
| de | Laminin-Alpha-2-assoziierte Muskeldystrophie | LAMA2-assoziierte Muskeldystrophie |
| es | Distrofia muscular asociada a la subunidad alfa-2 de la laminina | Defectos cualitativos o cuantitativos de la merosina · Distrofia muscular asociada a LAMA2 |
| it | Deficit qualitativi o quantitativi di merosina | |
| nl | Kwalitatieve of kwantitatieve defecten van merosine | |
| pt | Distrofia muscular associada à subunidade alfa 2 da laminina | |
| pl | Defekty jakościowe lub ilościowe merozyny | = en |
| cs | Kvalitativní nebo kvantitativní defekty merosinu | = en |
| uk | Ламінінова субодиниця альфа-2, повязана з мязовою дистрофією | LAMA2-асоційована мязова дистрофія · Якісні або кількісні дефекти мерозину |
| zh | 层粘连蛋白亚单位α2相关的肌营养不良症 | 定性或定量分层蛋白缺乏 |
| tr | Laminin alt birimi alfa 2 -ilişkili kas distrofisi | LAMA2-ilişkili kas distrofisi · Merosinin kalitatif veya kantitatif defektleri |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16149 | E | validated | |
| UMLS | C5679788 | 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/207094
- This record as JSON: /data/d/207094.json