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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 |
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Subclass Logical Relationships |
has symptom some hepatic dysfunction |