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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2I [DOID:0110299] 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 gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
  • synonyms:
  • Limb-girdle muscular dystrophy due to FKRP deficiency,
  • 607155,
  • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related,
  • MDDGC5,
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5,
  • LGMD2I,
  • muscular dystrophy limb-girdle type 2I,
  • OMIM:607155,
  • ICD10CM:G71.0,
  • ORDO:34515
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