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Disease Ontology Browser
facioscapulohumeral muscular dystrophy 2 (DOID:0111193)
Alliance: disease page
Synonyms: facioscapulohumeral muscular dystrophy 1B; facioscapulohumeral muscular dystrophy type 2; FSHD2
Alt IDs: OMIM:158901
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory