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

Disease Ontology Definition:A distal muscular dystrophy 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 TTN gene on chromosome 2q31.

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

Echinobase Genes :


OMIM:
MIM:600334 - tibial muscular dystrophy, tardive

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 muscular dystrophy (is_a)