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Metadata
ID	DOID:0060697
Name	hyperekplexia 2
Definition	A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. https://www.ncbi.nlm.nih.gov/pubmed/11929858, https://www.ncbi.nlm.nih.gov/pubmed/21391991
Xrefs	ICD10CM:G25.8 MIM:614619 ORDO:3197
Subsets	DO_rare_slim
Synonyms	HKPX2 [EXACT]
Parent Relationships	is_a hyperekplexia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance