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Metadata
ID DOID:0070250
Name autosomal dominant Emery-Dreifuss muscular dystrophy 5
Definition An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.
https://www.ncbi.nlm.nih.gov/pubmed/17761684
Xrefs

OMIM:612999

Synonyms

EDMD5 [EXACT]

Emery-Dreifuss muscular dystrophy 5, autosomal dominant [EXACT]

Parent Relationships

is_a Emery-Dreifuss muscular dystrophy

is_a autosomal dominant disease

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