Hyperekplexia 4
Disease ID: disease_node_20162
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| Dbxref | MIM:618011 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060695 |
| Data Source | DOID |
| Doid Label | hyperekplexia 4 |
| Doid Description | A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20162 |
| Doid Id | DOID_0080581 |
| Label | Hyperekplexia 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)