Version: 8.0.0
Date: Tue Jan 28 2025
autosomal dominant Emery-Dreifuss muscular dystrophy 2
DOID:0070247
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal dominant Emery-Dreifuss muscular dystrophy 2

Definition
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
Synonyms
  • autosomal dominant limb-girdle muscular dystrophy type 1B
  • EDMD2
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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