Facioscapulohumeral muscular dystrophy 2
Facioscapulohumeral muscular dystrophy 2
Definition
Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.
Also known as facioscapulohumeral muscular dystrophy 2, facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1, facioscapulohumeral muscular dystrophy type 2, fascioscapulohumeral muscular dystrophy 2, digenic, digenic dominant, SMCHD1 facioscapulohumeral muscular dystrophy — per MONDO
Also identified as
- DOID 0111193 per MONDO
- MESH C563557 per MONDO
- NCIT C172705 per MONDO
- OMIM 158901 per MONDO
- UMLS C1834671 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Musculature | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculature | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Musculoskeletal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Peripheral nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |