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Disease Ontology Browser
hyperekplexia 1 (DOID:0060696)
Alliance: disease page
Synonyms: HKPX1
Alt IDs: OMIM:149400, ICD10CM:G25.8, MESH:D000071017, ORDO:3197
Definition: A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory