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Summary Literature (0)
DOID:0060696 - hyperekplexia 1

Disease Ontology Definition:A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.

Synonyms: HKPX1

Xenbase Genes : gphn, slc6a5, glrb, glra1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007868 - hyperekplexia 1


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)