congenital myopathy 27 Disease Ontology Browser

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congenital myopathy 27 (DOID:0061258)
Alliance: disease page
Alt IDs: OMIM:621343
Definition: A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11.

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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