Term Name: | facioscapulohumeral muscular dystrophy 2 |
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Synonyms: | facioscapulohumeral muscular dystrophy 1B, facioscapulohumeral muscular dystrophy type 2, FSHD2 |
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. |
Ontology: | Human Disease [DOID:0111193] ( DOID:0111193 ) |