FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyperekplexia 1 ID (Ontology) DOID:0060696 (Human Disease)
Definition A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
Also Known As "HKPX1"
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 Genes
 hyperekplexia 1       8
 for disease ribbon | hyperekplexia 1       8
 model of | hyperekplexia 1       8
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
nervous system disease           |
 |__hyperekplexia________________|
                                 hyperekplexia 1  8 rec.
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Is a autosomal dominant disease
autosomal recessive disease
hyperekplexia
Part of
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Synonyms
  • "HKPX1" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G25.8
MESH:D000071017
MIM:149400
ORDO:3197