|
General Information
|
| Term |
autosomal dominant limb-girdle muscular dystrophy type 1 |
ID (Ontology) |
DOID:0110305 (Human Disease) |
| Definition |
An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. |
| Also Known As |
"autosomal dominant limb-girdle muscular dystrophy type 1E" ; "muscular dystrophy limb-girdle type 1D" ; "muscular dystrophy limb-girdle type 1E" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes |
|---|
autosomal dominant limb-girdle muscular dystrophy type 1 | 2 | 1 | for disease ribbon | autosomal dominant limb-girdle muscular dystrophy type 1 | -- | 1 | model of | autosomal dominant limb-girdle muscular dystrophy type 1 | 2 | 1 |
|
Relationships