WormBase Tree Display for DO_term: DOID:0111078
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DOID:0111078 | Name | tibial muscular dystrophy | |||
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Status | Valid | ||||
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. | ||||
Synonym | Exact | Finnish tibial muscular dystrophy | |||
TMD | |||||
Tardive tibial muscular dystrophy | |||||
Udd myopathy | |||||
Udd type distal myopathy | |||||
distal titinopathy | |||||
Parent | Is_a | DOID:11720 | |||
DOID:0050736 | |||||
DB_info | Database | OMIM | disease | 600334 | |
Attribute_of | Gene_by_orthology | WBGene00006759 |