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Metadata
ID DOID:0070248
Name autosomal recessive Emery-Dreifuss muscular dystrophy 3
Definition An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/10739764
Xrefs

OMIM:616516

Synonyms

EDMD3 [EXACT]

Emery-Dreifuss muscular dystrophy 3, autosomal recessive [EXACT]

Parent Relationships

is_a Emery-Dreifuss muscular dystrophy

is_a autosomal recessive disease

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