Distal Myopathies
Disease ID: disease_node_11395
Connections displayed (default: 10).
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| Dbxref | MESH:D049310, MIM:600334, ORDO:609, SNOMEDCT_US_2023_03_01:698846009, UMLS_CUI:C1838244 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080001, DOID_11720 |
| Data Source | DOID, MESH |
| Synonyms | Finnish tibial muscular dystrophy, TMD, Tardive tibial muscular dystrophy, Udd myopathy, Udd type distal myopathy, distal titinopathy |
| Disease Has Location | UBERON_0000979 |
| Mesh Id | D049310 |
| Mesh Label | Distal Myopathies |
| Mesh Subclassof | D009136 |
| Doid Label | tibial muscular dystrophy |
| Doid Description | A distal myopathy that is characterized by autosomal domit 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_11395 |
| Doid Id | DOID_0111078 |
| Label | Distal Myopathies |
- Outgoing r'ship
SUBCLASS_OFto/from Bone Diseases(ID:disease_node_1637) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)