OBO ID: DOID:0110278
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2D Search Ontology:
Synonyms:
  • Alpha-sarcoglycanopathy
  • DMDA2
  • Duchenne-like autosomal recessive muscular dystrophy type 2
  • LGMD2D
  • muscular dystrophy, limb-girdle, type 2D
  • primary adhalinopathy
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. (3)
References:
Ontology: Human Disease   ( DOID:0110278 )
OTHER autosomal recessive limb-girdle muscular dystrophy type 2D PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SGCA Muscular dystrophy, limb-girdle, autosomal recessive 3 608099
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None