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Human Disease

facioscapulohumeral muscular dystrophy 1

Term ID
DOID:0111192
Synonyms
  • facioscapulohumeral muscular dystrophy type 1
  • facioscapulohumeral muscular dystrophy type 1A
  • FSHD1
Definition
A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (2)
References
Ontology
Human Disease   ( DOID:0111192 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations