FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperekplexia ID (Ontology) DOID:0060695 (Human Disease)
Definition A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.
Also Known As "congenital stiff man syndrome" ; "familial startle disease" ; "hereditary hyperekplexia" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  disease of anatomical entity
   |__nervous system disease
       |__hyperekplexia  18 rec.
           |__hyperekplexia 1 8 rec.
           |__hyperekplexia 2 7 rec.
           |__hyperekplexia 3 8 rec.
           |__hyperekplexia 4 2 rec.
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Is a nervous system disease
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Synonyms
  • "congenital stiff man syndrome" EXACT
    "familial startle disease" EXACT
    "hereditary hyperekplexia" EXACT
    "Kok disease" EXACT
    "startle disease" EXACT
Secondary IDs
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GARD:3129
ICD10CM:G25.8
MESH:D000071017
MIM:PS149400
ORDO:3197