autosomal dominant limb-girdle muscular dystrophy type 1

Summary

DOID:0110305 - autosomal dominant limb-girdle muscular dystrophy type 1

Disease Ontology Definition:An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1E, LGMD1D, muscular dystrophy limb-girdle type 1D, muscular dystrophy limb-girdle type 1E

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

: dnajb6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

MONDO:0021018 - autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

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)