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Disease Ontology Browser
myofibrillar myopathy 3 (DOID:0080094)
Alliance: disease page
Synonyms: autosomal dominant limb-girdle muscular dystrophy type 1A; LGMD1A; LGMD 1A; myotilinopathy; spheroid body myopathy
Alt IDs: OMIM:609200, ICD10CM:G71.0, MESH:C000598645, MESH:C535906, ORDO:266, ORDO:268129
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.

Disease References using Mouse Models (1)
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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11/12/2024
MGI 6.24 		The Jackson Laboratory