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| Term | facioscapulohumeral muscular dystrophy 2 | ID (Ontology) | DOID:0111193 (Human Disease) |
| 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. | ||
| Also Known As | "facioscapulohumeral muscular dystrophy 1B" ; "facioscapulohumeral muscular dystrophy type 2" ; "FSHD2" | ||
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| DO.org | |||
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polygenic disease |__digenic disease_________________________ muscular dystrophy | |__facioscapulohumeral muscular dystrophy__| facioscapulohumeral muscular dystrophy 2 |
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digenic disease facioscapulohumeral muscular dystrophy |
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| MIM:158901 | |||