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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2D [DOID:0110278] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • LGMD2D,
  • DMDA2,
  • Duchenne-like autosomal recessive muscular dystrophy type 2,
  • 608099,
  • muscular dystrophy, limb-girdle, type 2D,
  • primary adhalinopathy,
  • OMIM:608099,
  • ORDO:62,
  • ICD10CM:G71.0,
  • Alpha-sarcoglycanopathy
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Ontology Term --> Direct parents