Term Name: | Ullrich congenital muscular dystrophy |
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Synonyms: | ULLRICH DISEASE, Ullrich scleroatonic muscular dystrophy |
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. |
Ontology: | Human Disease [DOID:0050558] ( DOID:0050558 ) |