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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 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.

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

Xenbase Genes : ttn

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

MIM:
MIM:600334 - TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD

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

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