autosomal dominant Emery-Dreifuss muscular dystrophy 5

Term ID

DOID:0070250

Synonyms

• EDMD5
• Emery-Dreifuss muscular dystrophy 5, autosomal dominant

Definition

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. https://www.ncbi.nlm.nih.gov/pubmed/17761684

References

• OMIM:612999

Ontology

Human Disease   ( DOID:0070250 )