Ullrich Congenital Muscular Dystrophy 1B
Disease ID: disease_node_17427
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| Dbxref | MIM:620727 |
|---|---|
| Subclassof | DOID_0050558 |
| Data Source | DOID |
| Doid Label | Ullrich congenital muscular dystrophy 1B |
| Doid Description | An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17427 |
| Doid Id | DOID_0060942 |
| Label | Ullrich Congenital Muscular Dystrophy 1B |
- Outgoing r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy(ID:disease_node_17423) (Disease)