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Metadata
ID DOID:0111193
Name facioscapulohumeral muscular dystrophy 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/20975055, https://www.ncbi.nlm.nih.gov/pubmed/23143600
Xrefs

OMIM:158901

Synonyms

facioscapulohumeral muscular dystrophy 1B [EXACT]

facioscapulohumeral muscular dystrophy type 2 [EXACT]

FSHD2 [EXACT]

Parent Relationships

is_a facioscapulohumeral muscular dystrophy

is_a digenic disease

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