Ullrich Congenital Muscular Dystrophy 2
Disease ID: disease_node_17424
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| Dbxref | GARD:4769, MIM:616470, ORDO:75840 |
|---|---|
| Subclassof | DOID_0050558 |
| Data Source | DOID |
| Doid Label | Ullrich congenital muscular dystrophy 2 |
| Doid Description | An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. |
| Disease Node Id | disease_node_17424 |
| Doid Id | DOID_0060948 |
| Label | Ullrich Congenital Muscular Dystrophy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy(ID:disease_node_17423) (Disease)