autosomal recessive limb-girdle muscular dystrophy type 2E

Summary

DOID:0110279 - autosomal recessive limb-girdle muscular dystrophy type 2E

Disease Ontology Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

Synonyms: Beta-sarcoglycanopathy, LGMD2E, muscular dystrophy, limb-girdle, type 2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

Echinobase 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

: sgcb

MIM:

MIM:604286 - muscular dystrophy, limb-girdle, type 2e; lgmd2e

MIM:604286 - muscular dystrophy, limb-girdle, type 2e; lgmd2e

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)