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Experimental Factor Ontology
Last uploaded:
November 18, 2024
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| Preferred Name | autosomal dominant dopa-responsive dystonia | |
| Synonyms |
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| Definitions |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0971063 |
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| database_cross_reference |
Orphanet:98808
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|
| definition |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.
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| exactMatch | ||
| IAO_0000233 | ||
| id |
MONDO:0971063
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
autosomal dominant dopa-responsive dystonia
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| notation |
MONDO:0971063
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| preferred label |
autosomal dominant dopa-responsive dystonia
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| prefLabel |
autosomal dominant dopa-responsive dystonia
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016812 |
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