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Metadata
ID	DOID:0060696
Name	hyperekplexia 1
Definition	A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/7881416, https://www.ncbi.nlm.nih.gov/pubmed/8298642
Xrefs	ICD10CM:G25.8 MESH:D000071017 OMIM:149400 ORDO:3197
Subsets	DO_rare_slim
Synonyms	HKPX1 [EXACT]
Parent Relationships	is_a hyperekplexia is_a autosomal recessive disease is_a autosomal dominant disease