| Metadata | |
|---|---|
| ID | DOID:0060696 |
| Name | hyperekplexia 1 |
| Definition | A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/7881416, https://www.ncbi.nlm.nih.gov/pubmed/8298642 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HKPX1 [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 |