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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Dystonia 28, Childhood-onset
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Accession:DOID:9004049 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:An autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. (OMIM)
Synonyms:exact_synonym: DYT28
 broad_synonym: KMT2B-RELATED CONDITION
 xref: EFO:0009301
 replaced_by: DOID:0060936


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