| Metadata | |
|---|---|
| ID | DOID:0111078 |
| Name | tibial muscular dystrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8503797, https://www.ncbi.nlm.nih.gov/pubmed/196233, https://www.ncbi.nlm.nih.gov/pubmed/12145747 |
| Xrefs |
SNOMEDCT_US_2023_03_01:698846009 |
| Subsets |
DO_rare_slim |
| Synonyms |
distal titinopathy [EXACT] Finnish tibial muscular dystrophy [EXACT] Tardive tibial muscular dystrophy [EXACT] TMD [EXACT] Udd myopathy [EXACT] Udd type distal myopathy [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a distal myopathy is_a bone disease |
| Subclass Logical Relationships |
disease has location some tibia has material basis in some autosomal dominant inheritance |