OBO ID: DOID:0060698
Term Name: hyperekplexia 3 Search Ontology:
Synonyms:
  • HKPX3
Definition: A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (2)
References:
Ontology: Human Disease   ( DOID:0060698 )
OTHER hyperekplexia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC6A5 Hyperekplexia 3 614618
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None