Term Name: | Ullrich congenital muscular dystrophy 2 |
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Synonyms: | |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060948] ( DOID:0060948 ) |