Distal Myopathy With Anterior Tibial Onset
Disease ID: disease_node_18918
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| Dbxref | MIM:606768, ORDO:178400 |
|---|---|
| Subclassof | DOID_0050737, DOID_11720 |
| Data Source | DOID |
| Synonyms | DMAT, distal muscular dystrophy with anterior tibial onset |
| Disease Has Location | UBERON_0000978 |
| Doid Label | distal myopathy with anterior tibial onset |
| Doid Description | A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. |
| Existence Starts During | HP_0011462 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18918 |
| Doid Id | DOID_0111187 |
| Label | Distal Myopathy With Anterior Tibial Onset |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)