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SELENON-related myopathy
Disease Summary
Associated Targets (3)
Tbio
3
Mondo Description Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.
Mondo Term and Equivalent IDs
MONDO:0100100: SELENON-related myopathy
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MONDO:0100100
High level summary of knowledge for a disease, including descriptions and datasource references.