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Mondo Disease Ontology
Last uploaded:
December 3, 2024
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| Preferred Name | autosomal dominant dopa-responsive dystonia | |
| Synonyms | ||
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0971063 |
|
| database_cross_reference |
Orphanet:98808
|
|
| 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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|
| IAO_0000233 | ||
| id |
MONDO:0971063
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
autosomal dominant dopa-responsive dystonia
|
|
| notation |
MONDO:0971063
|
|
| prefLabel |
autosomal dominant dopa-responsive dystonia
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|
| skos_exactMatch | ||
| treeView |
http://purl.obolibrary.org/obo/MONDO_0016812 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016812 |
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