hyperekplexia 1

A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. [ http://www.ncbi.nlm.nih.gov/pubmed/7881416 http://www.ncbi.nlm.nih.gov/pubmed/8298642 DOID:0060696 ]

Synonyms: hyperekplexia, hereditary type 1 hyperekplexia type 1 hyperekplexia 1 HKPX1

This is just here as a test because I lose it

database cross reference

Subsets

gard_rare, rare, nord_rare

exactMatch

http://identifiers.org/medgen/1647581

http://purl.obolibrary.org/obo/DOID_0060696

http://linkedlifedata.com/resource/umls/id/C4551954

https://omim.org/entry/149400

has related synonym

hyperekplexia, hereditary 1

startle reaction, exaggerated

Sthe

startle disease, familial

Kok disease

Stiff-Man syndrome, congenital

exaggerated startle reaction

Stiff-Person syndrome, congenital

Stiff-baby syndrome

MONDO:0007868

Subclass of: