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hereditary hyperekplexia

Disease Summary
Associated Targets (7)
Tbio

3

Tclin

2

Tchem

2


Explore Associated Targets
Mondo Description Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.
Disease Ontology Description A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
Mondo Term and Equivalent IDs
MONDO:0021022:  hereditary hyperekplexia
GARD:0003129: 
OMIMPS:149400: 
Orphanet:3197: 
SCTID:724351008: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)