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Summary Literature (0)
DOID:0111078 - tibial muscular dystrophy

Disease Ontology Definition:A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31.

Synonyms: Finnish tibial muscular dystrophy, TMD, Tardive tibial muscular dystrophy, Udd myopathy, Udd type distal myopathy, distal titinopathy,

Xenbase Genes : ttn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010870 - tibial muscular dystrophy


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), distal myopathy (is_a)