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Summary Literature (0)
DOID:0060695 - hyperekplexia

Disease Ontology Definition:A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.

Synonyms: congenital stiff man syndrome, familial startle disease, hereditary hyperekplexia, Kok disease, startle disease

Xenbase Genes : gphn, slc6a5, glrb, atad1, glra1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0021022 - hereditary hyperekplexia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): nervous system disease (is_a)