Metadata | |
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ID | DOID:0050558 |
Name | Ullrich congenital 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. https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ULLRICH DISEASE [EXACT] Ullrich scleroatonic muscular dystrophy [EXACT] |
Parent Relationships |
is_a autosomal recessive disease |