Term Name:	Ullrich congenital muscular dystrophy
Synonyms:	ULLRICH DISEASE, Ullrich scleroatonic muscular dystrophy
Definition:	A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes.
Ontology:	Human Disease [DOID:0050558] ( DOID:0050558 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease congenital muscular dystrophy
has subtype:	Ullrich congenital muscular dystrophy 1A Ullrich congenital muscular dystrophy 1B Ullrich congenital muscular dystrophy 1C Ullrich congenital muscular dystrophy 2