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facioscapulohumeral muscular dystrophy 2
Disease Summary
Associated Targets (4)
Tbio
2
Tchem
1
Tdark
1
Mondo Description Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the SMCHD1 gene.
Uniprot Description A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111193
MESH:C563557
NCIT:C172705
OMIM:158901
UMLS:C1834671
MONDO:0008031
High level summary of knowledge for a disease, including descriptions and datasource references.