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hyperekplexia 3
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
Uniprot Description A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.
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:0060698
OMIM:614618
UMLS:C3553288
MONDO:0013827
High level summary of knowledge for a disease, including descriptions and datasource references.