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DO Term : autosomal dominant Emery-Dreifuss muscular dystrophy 4 [DOID:0070249] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2.
  • synonyms:
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant,
  • EDMD4,
  • 612998,
  • Emery-Dreifuss muscular dystrophy 4 with variable features,
  • OMIM:612998
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