Hyperekplexia 2
Disease ID: disease_node_20163
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G25.8, MIM:614619, ORDO:3197 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060695 |
| Data Source | DOID |
| Synonyms | HKPX2 |
| Doid Label | hyperekplexia 2 |
| Doid Description | A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20163 |
| Doid Id | DOID_0060697 |
| Label | Hyperekplexia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)