Search Ontology:
Human Disease

facioscapulohumeral muscular dystrophy 3

Term ID
DOID:0060917
Synonyms
  • facioscapulohumeral muscular dystrophy type 3
  • FSHD3
Definition
A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/32467133/
References
Ontology
Human Disease   ( DOID:0060917 )
Relationships
is a type of
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Genes Involved
Zebrafish Models