ZFIN Human Disease: hyperekplexia 1

OBO ID: DOID:0060696

OBO ID: DOID:0060696

Term Name:	hyperekplexia 1	Search Ontology:
Synonyms:	HKPX1
Definition:	A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (2)
References:	ICD10CM:G25.8 MESH:D000071017 OMIM:149400 ORDO:3197
Ontology:	Human Disease ( DOID:0060696 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease hyperekplexia autosomal dominant disease autosomal recessive disease hyperekplexia Show first 5 Terms

OTHER hyperekplexia 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GLRA1	glra1	Hyperekplexia 1	149400

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None