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nemaline myopathy 7
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
Uniprot Description A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved.
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:0110934
MESH:C565198
OMIM:610687
UMLS:C1853154
MONDO:0012538
High level summary of knowledge for a disease, including descriptions and datasource references.