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Summary Literature (0)
DOID:0060697 - hyperekplexia 2

Disease Ontology Definition:A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.

Synonyms: HKPX2

Xenbase Genes : glrb

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013828 - hyperekplexia 2


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

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