Term Name: facioscapulohumeral muscular dystrophy 2
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 )

Relationships
is a type of: digenic disease facioscapulohumeral muscular dystrophy