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Metadata
ID DOID:0060695
Name hyperekplexia
Definition A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
https://www.ncbi.nlm.nih.gov/pubmed/12427512, https://www.ncbi.nlm.nih.gov/pubmed/1334371
Xrefs

ICD10CM:G25.8

OMIM:PS149400

ORDO:3197

Subsets

DO_rare_slim

Synonyms

congenital stiff man syndrome [EXACT]

familial startle disease [EXACT]

hereditary hyperekplexia [EXACT]

Kok disease [EXACT]

startle disease [EXACT]

Parent Relationships

is_a nervous system disease

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