Search Ontology:
Human Disease

hyperekplexia 1

Term ID
DOID:0060696
Synonyms
  • HKPX1
Definition
A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (2)
References
Ontology
Human Disease   ( DOID:0060696 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models