Metadata | |
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ID | DOID:0070252 |
Name | autosomal dominant Emery-Dreifuss muscular dystrophy 7 |
Definition | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. https://www.ncbi.nlm.nih.gov/pubmed/21391237 |
Xrefs | |
Synonyms |
EDMD7 [EXACT] Emery-Dreifuss muscular dystrophy 7, autosomal dominant [EXACT] |
Parent Relationships |