Term Name: autosomal recessive limb-girdle muscular dystrophy type 2Y
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 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy