BabelNet

bn:05495618n

Noun Named Entity

autosomal recessive limb-girdle muscular dystrophy type 2K LGMD2K limb-girdle muscular dystrophy-intellectual disability syndrome MDDGC1 Muscular Dystrophy, Limb-Girdle, Type 2K

Autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1) Wikidata

Definitions

Relations

Sources

Autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1) Wikidata

IS A

rare disease

GENETIC ASSOCIATION

POMT1

HEALTH SPECIALTY

neurology

Wikidata

autosomal recessive limb-girdle muscular dystrophy type 2K

Wikidata Alias

LGMD2K, limb-girdle muscular dystrophy-intellectual disability syndrome, MDDGC1, Muscular Dystrophy, Limb-Girdle, Type 2K, muscular dystrophy limb-girdle type 2K, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1