FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term autosomal dominant Emery-Dreifuss muscular dystrophy 5 ID (Ontology) DOID:0070250 (Human Disease)
Definition An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.
Also Known As "EDMD5" ; "Emery-Dreifuss muscular dystrophy 5, autosomal dominant"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 autosomal dominant Emery-Dreifuss muscular dystrophy 5       1
 for disease ribbon | autosomal dominant Emery-Dreifuss muscular dystrophy 5       1
 model of | autosomal dominant Emery-Dreifuss muscular dystrophy 5       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease_________
muscular dystrophy                     |
 |__Emery-Dreifuss muscular dystrophy__|
                                       autosomal dominant Emery-Dreifuss muscular dystrophy 5  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
Emery-Dreifuss muscular dystrophy
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "EDMD5" EXACT OMO:0003012
    "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:612999