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Summary Literature (1)
MIM:614618 - HYPEREKPLEXIA 3; HKPX3

Xenbase Genes: slc6a5

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013827 - hyperekplexia 3
MONDO:0021022 - hereditary hyperekplexia

Disease Ontology (DO):
DOID:0060698 - hyperekplexia 3