Search Ontology:
Human Disease

facioscapulohumeral muscular dystrophy 2

Term ID
DOID:0111193
Synonyms
  • facioscapulohumeral muscular dystrophy 1B
  • facioscapulohumeral muscular dystrophy type 2
  • FSHD2
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. (2)
References
Ontology
Human Disease   ( DOID:0111193 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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