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Summary Literature (0)
DOID:0060698 - hyperekplexia 3

Disease Ontology Definition:A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.

Synonyms: HKPX3

Xenbase Genes : slc6a5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013827 - hyperekplexia 3


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), hyperekplexia (is_a)