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General Information
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| Term |
hypermanganesemia with dystonia 1 |
ID (Ontology) |
DOID:0080536 (Human Disease) |
| 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. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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hypermanganesemia with dystonia 1 | 1 | for disease ribbon | hypermanganesemia with dystonia 1 | 1 | model of | hypermanganesemia with dystonia 1 | 1 |
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