1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060946 | Ullrich congenital muscular dystrophy 1A | 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 COL6A1 gene on chromosome 21q22. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:440 | neuromuscular disease | A neuropathy that affect the nerves that control the voluntary muscles. |
