autosomal dominant limb-girdle muscular dystrophy
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
| gptkbp:abbreviation |
gptkb:LGMD1
LGMD D |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant limb-girdle muscular dystrophy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
various genes
|
| gptkbp:OMIM |
603511
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:subspecies |
gptkb:limb-girdle_muscular_dystrophy
|
| gptkbp:symptom |
muscle weakness
proximal muscle weakness |
| gptkbp:bfsParent |
gptkb:wingless-type_MMTV_integration_site_family,_member_5A
|
| gptkbp:bfsLayer |
8
|