Brown-Vialetto-Van Laere Syndrome 1
Disease ID: disease_node_20388
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| Dbxref | MIM:211530 |
|---|---|
| Subclassof | DOID_0050694, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Brown-Vialetto-Van Laere syndrome 1 |
| Doid Description | A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20388 |
| Doid Id | DOID_0080785 |
| Label | Brown-Vialetto-Van Laere Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)