facioscapulohumeral muscular dystrophy 2

Go to external page http://purl.obolibrary.org/obo/DOID_0111193


A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in SMCHDI on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: facioscapulohumeral muscular dystrophy 1B FSHD2 facioscapulohumeral muscular dystrophy type 2

This is just here as a test because I lose it