autosomal recessive limb-girdle muscular dystrophy type 2Y

Summary

DOID:0110289 - autosomal recessive limb-girdle muscular dystrophy type 2Y

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.

Synonyms: autosomal recessive muscular dystrophy due to LAP1B deficiency, autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, LGMD2Y, muscular dystrophy, limb-girdle, type 2Y, muscular dystrophy with progressive weakness, distal contractures and rigid spine

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tor1aip1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014900 - autosomal recessive limb-girdle muscular dystrophy type 2Y

MONDO:0014900 - autosomal recessive limb-girdle muscular dystrophy type 2Y

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)