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DO Term : facioscapulohumeral muscular dystrophy 2 [DOID:0111193] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • FSHD2,
  • facioscapulohumeral muscular dystrophy 1B,
  • facioscapulohumeral muscular dystrophy type 2,
  • 158901,
  • OMIM:158901
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