| 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 | |
| SKOS |
exactMatch GARD:3129 |
| 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 |