Ullrich congenital muscular dystrophy

Summary

DOID:0050558 - Ullrich congenital muscular dystrophy

Disease Ontology Definition:A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen.

Synonyms: ULLRICH DISEASE, Ullrich scleroatonic muscular dystrophy,

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

: col6a3, col6a1, col12a1, col6a2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0000355 - Ullrich congenital muscular dystrophy

MONDO:0000355 - Ullrich congenital muscular dystrophy

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

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

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), congenital muscular dystrophy (is_a)