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Disease Ontology Browser
hyperekplexia 3 (DOID:0060698)
Alliance: disease page
Synonyms: HKPX3
Alt IDs: OMIM:614618, ICD10CM:G25.8, ORDO:3197
Definition: A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.

Disease References using Mouse Models (2)
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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12/10/2024
MGI 6.24 		The Jackson Laboratory