Search Ontology:
Human Disease
hyperekplexia 1
- Term ID
- DOID:0060696
- Synonyms
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- HKPX1
- Definition
- A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (2)
- References
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- ICD10CM:G25.8
- MESH:D000071017
- MIM:149400
- ORDO:3197
- Ontology
- Human Disease ( DOID:0060696 )
- is a type of
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Genes Involved
Zebrafish Models