| Metadata | |
|---|---|
| ID | DOID:0070247 |
| Name | autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
| Definition | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/10080180, https://www.ncbi.nlm.nih.gov/pubmed/10814726, https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant limb-girdle muscular dystrophy type 1B [EXACT] EDMD2 [EXACT] EMD2 [EXACT] Emery-Dreifuss muscular dystrophy 2, autosomal dominant [EXACT] Emery-Dreifuss muscular dystrophy, autosomal dominant [EXACT] Hauptmann-Thannhauser muscular dystrophy [EXACT] muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant [EXACT] scapuloilioperoneal atrophy with cardiopathy [EXACT] |
| Parent Relationships |