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facioscapulohumeral muscular dystrophy 2
Summary
- Synonym
-
- FSHD2
- facioscapulohumeral muscular dystrophy 1B
- facioscapulohumeral muscular dystrophy type 2
- 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.
- Super Class
- digenic disease facioscapulohumeral muscular dystrophy
External Links
- Disease Ontology
- DOID:0111193
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003307 | Hyperlordosis |
| HP:0000298 | Mask-like facies |
| HP:0008046 | Abnormal retinal vascular morphology |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0100540 | Palpebral edema |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0003457 | EMG abnormality |
