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dystonia 28, childhood-onset
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.
Uniprot Description A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region.
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.
OMIM:617284
Orphanet:589618
UMLS:C4310633
MONDO:0015004
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.