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DO Term : autosomal dominant Emery-Dreifuss muscular dystrophy 7 [DOID:0070252] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.
  • synonyms:
  • EDMD7,
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant,
  • 614302,
  • OMIM:614302
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents