Hyperekplexia 3
Disease ID: disease_node_20161
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G25.8, MIM:614618, ORDO:3197 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0060695 |
| Data Source | DOID |
| Synonyms | HKPX3 |
| Doid Label | hyperekplexia 3 |
| Doid Description | A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_20161 |
| Doid Id | DOID_0060698 |
| Label | Hyperekplexia 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)