Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive limb-girdle muscular dystrophy type 2D
DOID:0110278
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal recessive limb-girdle muscular dystrophy type 2D

Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q.
Synonyms
  • Alpha-sarcoglycanopathy
  • DMDA2
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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