autosomal recessive limb-girdle muscular dystrophy type 2B

Summary

DOID:0110276 - autosomal recessive limb-girdle muscular dystrophy type 2B

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.

Synonyms: LGMD2B, LGMD3, limb-girdle muscular dystrophy due to dysferlin deficiency, limb-girdle muscular dystrophy type 3

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

: dysf

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009676 - autosomal recessive limb-girdle muscular dystrophy type 2B

MONDO:0009676 - autosomal recessive limb-girdle muscular dystrophy type 2B

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)