Search Ontology:
Human Disease

facioscapulohumeral muscular dystrophy 4

Term ID
DOID:0060918
Synonyms
  • facioscapulohumeral muscular dystrophy type 4
  • FSHD4
Definition
A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/27153398/
References
Ontology
Human Disease   ( DOID:0060918 )
Relationships
is a type of
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Genes Involved
Zebrafish Models