|
General Information
|
| Term |
autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
ID (Ontology) |
DOID:0070247 (Human Disease) |
| Definition |
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. |
| Also Known As |
"autosomal dominant limb-girdle muscular dystrophy type 1B" ; "EDMD2" ; "EMD2" (for all, see Synonyms field below) |
| 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 | 4 | | Human Disease Models (FBhh) | DOID | 1 |
|
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 | Human Disease Models |
|---|
autosomal dominant Emery-Dreifuss muscular dystrophy 2 | 4 | 2 | 1 | for disease ribbon | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | -- | 2 | -- | model of | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | 4 | 2 | -- |
|
Relationships