| Metadata | |
|---|---|
| ID | DOID:0050659 |
| Name | biotin-responsive basal ganglia disease |
| Definition | A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. https://www.ncbi.nlm.nih.gov/books/NBK169615/, https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease |
| Xrefs | |
| Synonyms |
biotin-thiamine-responsive basal ganglia disease [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some ataxia has symptom some confusion has symptom some seizure has symptom some dysphagia disease has feature some dystonia |