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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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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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| Obsolete |
true |
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| database_cross_reference |
OMIM:128230 ICD10CM:G24.1 ORDO:98808
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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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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0090043
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| in_subset | ||
| label |
dystonia 5
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| notation |
DOID:0090043
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| note |
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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| owl:deprecated |
true
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| preferred label |
dystonia 5
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| prefLabel |
dystonia 5
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_543 http://uri.neuinfo.org/nif/nifstd/birnlex_12655 |
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