# hyperekplexia

> nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia

**Wikidata**: [Q1781802](https://www.wikidata.org/wiki/Q1781802)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hyperekplexia)  
**Source**: https://4ort.xyz/entity/hyperekplexia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
5. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)