OBO ID: DOID:0111193
Term Name: facioscapulohumeral muscular dystrophy 2 Search Ontology:
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 facioscapulohumeral muscular dystrophy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMCHD1 Facioscapulohumeral muscular dystrophy 2, digenic 158901
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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