loading...| Preferred Name |
Muscular Dystrophies, Limb-Girdle [Disease/Finding] |
|
| Synonyms |
Myopathic Limb-Girdle Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000011022 |
|
| altLabel |
Myopathic Limb-Girdle Syndrome Limb-Girdle Muscular Dystrophies Muscular Dystrophy, Limb-Girdle Muscular Dystrophies, Limb-Girdle Limb-Girdle Muscular Dystrophy Limb-Girdle Syndrome |
|
| cui |
C0686353 |
|
| MESH DEFINITION |
A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). |
|
| MESH DUI |
D049288 |
|
| MeSH name |
Muscular Dystrophies, Limb-Girdle |
|
| MESH UI |
M0335588 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000011022 |
|
| NUI |
N0000011022 |
|
| prefLabel |
Muscular Dystrophies, Limb-Girdle [Disease/Finding] |
|
| SNOMED CID |
93153005 |
|
| tui |
T047 |
|
| subClassOf |