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hyperekplexia
Summary
- Synonym
-
- Kok disease
- congenital stiff man syndrome
- familial startle disease
- hereditary hyperekplexia
- startle disease
- Definition
- A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
- Super Class
- nervous system disease
External Links
- Disease Ontology
- DOID:0060695
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q64018 | Glycine receptor subunit alpha-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O93430 | Glycine receptor subunit alphaZ1 |
