OBO ID: DOID:0080536 |
Term Name: | hypermanganesemia with dystonia 1 | Search Ontology: | |
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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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Ontology: | Human Disease ( DOID:0080536 ) |
OTHER hypermanganesemia with dystonia 1 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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