| Metadata | |
|---|---|
| ID | DOID:0111193 |
| Name | facioscapulohumeral muscular dystrophy 2 |
| Definition | A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. https://www.ncbi.nlm.nih.gov/pubmed/20975055, https://www.ncbi.nlm.nih.gov/pubmed/23143600 |
| Xrefs | |
| Synonyms |
facioscapulohumeral muscular dystrophy 1B [EXACT] facioscapulohumeral muscular dystrophy type 2 [EXACT] FSHD2 [EXACT] |
| Parent Relationships |
is_a facioscapulohumeral muscular dystrophy is_a digenic disease |