WormBase Tree Display for DO_term: DOID:0111078
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| DOID:0111078 | Name | tibial muscular dystrophy | |||
|---|---|---|---|---|---|
| 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 (6) | ||||
| Parent | Is_a (2) | ||||
| DB_info | Database | OMIM | disease | 600334 | |
| Attribute_of | Gene_by_orthology | WBGene00006759 |
