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Metadata
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 TMEM43 on chromosome 3p25.1.
https://www.ncbi.nlm.nih.gov/pubmed/21391237
Xrefs

OMIM:614302

Synonyms

EDMD7 [EXACT]

Emery-Dreifuss muscular dystrophy 7, autosomal dominant [EXACT]

Parent Relationships

is_a Emery-Dreifuss muscular dystrophy

is_a autosomal dominant disease

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