autosomal dominant limb-girdle muscular dystrophy type 1B

Summary

DOID:0110301 - autosomal dominant limb-girdle muscular dystrophy type 1B

Disease Ontology Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding lamin A/C (LMNA).

Synonyms: LGMD1B, Limb-girdle muscular dystrophy due to lamin A/C deficiency, muscular dystrophy, limb-girdle type 1B, proximal muscular dystrophy type 1B

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

: lmna

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0021569 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant

MONDO:0021569 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant

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

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

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