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Autosomal Domit Limb-Girdle Muscular Dystrophy Type 2

Disease ID: disease_node_18913

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DbxrefICD10CM:G71.0, MIM:608423, ORDO:55595
SubclassofDOID_0110273
Data SourceDOID
SynonymsLGMD1F, autosomal dominant limb-girdle muscular dystrophy type 1F, muscular dystrophy limb-girdle type 1F
Doid Labelautosomal domit limb-girdle muscular dystrophy type 2
Doid DescriptionAn autosomal domit limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.
Disease Node Iddisease_node_18913
Doid IdDOID_0110304
LabelAutosomal Domit Limb-Girdle Muscular Dystrophy Type 2