| 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 congenital muscular dystrophy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |