Bethlem myopathy 1C Disease Ontology Browser

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Disease Ontology Browser

Bethlem myopathy 1C (DOID:0061200)
Alliance: disease page
Alt IDs: OMIM:620726
Definition: A Bethlem myopathy that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the COL6A3 gene on chromosome 2q37.

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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