Brown-Vialetto-Van Laere Syndrome 2
Disease ID: disease_node_20387
Connections displayed (default: 10).
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| Dbxref | MIM:614707 |
|---|---|
| Subclassof | DOID_0050694, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Brown-Vialetto-Van Laere syndrome 2 |
| Doid Description | A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20387 |
| Doid Id | DOID_0080786 |
| Label | Brown-Vialetto-Van Laere Syndrome 2 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)