Autosomal Recessive Spinocerebellar Ataxia 19
Disease ID: disease_node_16030
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616291 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | Lichtenstein-Knorr syndrome, SCAR19 |
| Doid Label | autosomal recessive spinocerebellar ataxia 19 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. |
| Disease Node Id | disease_node_16030 |
| Doid Id | DOID_0080065 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 19 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)