| Metadata | |
|---|---|
| ID | DOID:0111192 |
| Name | facioscapulohumeral muscular dystrophy 1 |
| Definition | A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. https://www.ncbi.nlm.nih.gov/pubmed/1363881, https://www.ncbi.nlm.nih.gov/pubmed/15154112 |
| Xrefs | |
| Synonyms |
facioscapulohumeral muscular dystrophy type 1 [EXACT] facioscapulohumeral muscular dystrophy type 1A [EXACT] FSHD1 [EXACT] |
| Parent Relationships |