Facioscapulohumeral muscular dystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| FACIOSCAPULOHUMERAL DYSTROPHY | DNMT3B | Unknown | Orphanet | ||
| DUX4 | Unknown | — | Orphanet | ||
| FRG1 | Unknown | Orphanet | |||
| SMCHD1 | Unknown | Orphanet | |||
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY | DNMT3B | Unknown | HPO | ||
| SMCHD1 | Unknown | Disgenet | |||
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | FRG1 | Unknown | — | ClinVar Disgenet HPO | |
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A | FRG1 | Unknown | — | CTD | |
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | SMCHD1 | Unknown | CTD Disgenet | ||
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 | SMCHD1 | Causal | — | ClinVar | |
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC | SMCHD1 | Unknown | — | HPO | |
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC | LRIF1 | Causal | ClinVar Disgenet HPO | ||
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC | DNMT3B | Causal | — | ClinVar Disgenet HPO |