Hypermanganesemia With Dystonia 1
Disease ID: disease_node_17548
Connections displayed (default: 10).
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| Dbxref | MIM:613280 |
|---|---|
| Subclassof | DOID_0080535 |
| Data Source | DOID |
| Doid Label | hypermanganesemia with dystonia 1 |
| Doid Description | A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. |
| Has Symptom | SYMP_0000296 |
| Disease Node Id | disease_node_17548 |
| Doid Id | DOID_0080536 |
| Label | Hypermanganesemia With Dystonia 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Hepatic Dysfunction(ID:disease_node_21006) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hypermanganesemia With Dystonia(ID:disease_node_17546) (Disease)