| Metadata | |
|---|---|
| ID | DOID:0050558 |
| Name | Ullrich congenital 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. 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 |