| Metadata | |
|---|---|
| ID | DOID:0060698 |
| Name | hyperekplexia 3 |
| Definition | A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/16751771, https://www.ncbi.nlm.nih.gov/pubmed/22700964 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HKPX3 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hyperekplexia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |