Search Ontology:
Human Disease
facioscapulohumeral muscular dystrophy 2
- Term ID
- DOID:0111193
- Synonyms
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- 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 )
- is a type of
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