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Disease Ontology Browser
tibial muscular dystrophy (DOID:0111078)
Alliance: disease page
Synonyms: distal titinopathy; Finnish tibial muscular dystrophy; Tardive tibial muscular dystrophy; TMD; Udd myopathy; Udd type distal myopathy
Alt IDs: OMIM:600334, MESH:D049310, ORDO:609, UMLS_CUI:C1838244
Definition: A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.

Disease References using Mouse Models (2)
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