Hyperekplexia
Disease ID: disease_node_150
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G25.8, MESH:D000071017, MIM:149400, ORDO:3197 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0060695 |
| Data Source | DOID, MESH |
| Synonyms | HKPX1 |
| Mesh Id | D000071017 |
| Mesh Label | Hyperekplexia |
| Mesh Subclassof | D002493 |
| Doid Label | hyperekplexia 1 |
| Doid Description | A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_150 |
| Doid Id | DOID_0060696 |
| Label | Hyperekplexia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)