Ullrich congenital muscular dystrophy 2 Disease Ontology Browser

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Disease Ontology Browser

Ullrich congenital muscular dystrophy 2 (DOID:0060948)
Alliance: disease page
Alt IDs: OMIM:616470, ORDO:75840
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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