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Disease Ontology Browser
centronuclear myopathy (DOID:14717)
Alliance: disease page
Synonyms: myotubular myopathy
Alt IDs: ICD10CM:G71.22, MESH:D020914, NCI:C84648, ORDO:595, ORDO:596, ORDO:69186, ORDO:69189, UMLS_CUI:C0175709
Definition: A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.

Disease References using Mouse Models (8)
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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory