OBO ID: DOID:0111193 |
Term Name: | facioscapulohumeral muscular dystrophy 2 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111193 ) |
OTHER facioscapulohumeral muscular dystrophy 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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