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DO Term : autosomal dominant Emery-Dreifuss muscular dystrophy 5 [DOID:0070250] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.
  • synonyms:
  • OMIM:612999,
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant,
  • 612999,
  • EDMD5
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Disease

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Ontology

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Ontology Term --> Direct parents





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