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| Term | tibial muscular dystrophy | ID (Ontology) | DOID:0111078 (Human Disease) |
| 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. | ||
| Also Known As | "distal titinopathy" ; "Finnish tibial muscular dystrophy" ; "Tardive tibial muscular dystrophy" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ muscular dystrophy | |__distal myopathy_____________| tibial muscular dystrophy 3 rec. |
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| Is a |
autosomal dominant disease distal myopathy |
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External Crossreferences & Linkouts
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MESH:D049310 MIM:600334 ORDO:609 SNOMEDCT_US_2023_03_01:698846009 UMLS_CUI:C1838244 |
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