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bn:05504727n
Noun Named Entity
EN
autosomal recessive limb-girdle muscular dystrophy type 2O  LGMD2O  MDDGC3  Muscular Dystrophy, Limb-Girdle, Type 2O  Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
EN
Autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34 Wikidata
Definitions
Relations
Sources
EN
Autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34 Wikidata
IS A
rare disease
GENETIC ASSOCIATION
POMGNT1
HEALTH SPECIALTY
neurology
Wikidata
EN
autosomal recessive limb-girdle muscular dystrophy type 2O
Wikidata Alias
EN
LGMD2O, MDDGC3, Muscular Dystrophy, Limb-Girdle, Type 2O, Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related, muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3; MDDGC3, muscular dystrophy-dystroglycanopathy (limb-girdle) type C3

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