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DO Term : hyperekplexia [DOID:0060695] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
GARD:3129,
familial startle disease,
Kok disease,
congenital stiff man syndrome,
ORDO:3197,
PS149400,
hereditary hyperekplexia,
MESH:D000071017,
ICD10CM:G25.8,
startle disease,
OMIM:PS149400

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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