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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 SMCHDI 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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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory