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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | dystonia 5 | |
| Synonyms |
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| Definitions |
A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0090043 |
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| definition |
A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13.
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| imported from | ||
| label |
dystonia 5
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| prefixIRI |
DOID:0090043
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| prefLabel |
dystonia 5
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_543 |
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