Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2Y |
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Synonyms: | autosomal recessive muscular dystrophy due to LAP1B deficiency, autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, LGMD2Y, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystrophy, limb-girdle, type 2Y |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. |
Ontology: | Human Disease [DOID:0110289] ( DOID:0110289 ) |