hyperekplexia 3
Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
MONDO:0021022
hereditary hyperekplexia
is_a
HKPX3
exact
SLC6A5 hereditary hyperekplexia
exact
hereditary hyperekplexia caused by mutation in SLC6A5
exact
hyperekplexia 3
exact
hyperekplexia type 3
exact