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DOID:0060696 - hyperekplexia 1
Disease Ontology Definition:A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
Synonyms: HKPX1,
Echinobase Genes : gphn
MIM:149400 - hyperekplexia, hereditary 1; hkpx1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hyperekplexia (is_a)