FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperekplexia 4 ID (Ontology) DOID:0080581 (Human Disease)
Definition A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.
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 Genes
 hyperekplexia 4       2
 for disease ribbon | hyperekplexia 4       2
 model of | hyperekplexia 4       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
nervous system disease           |
 |__hyperekplexia________________|
                                 hyperekplexia 4  2 rec.
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Is a autosomal recessive disease
hyperekplexia
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MIM:618011