| Metadata | |
|---|---|
| ID | DOID:0080536 |
| Name | hypermanganesemia with dystonia 1 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/22341972 |
| Xrefs | |
| Parent Relationships |