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Summary Literature (0)
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 : col6a3, col6a1, col12a1, col6a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000355 - Ullrich congenital muscular dystrophy

Other Model Organisms: Alliance, 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)