FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term biotin-responsive basal ganglia disease ID (Ontology) DOID:0050659 (Human 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.
Also Known As "biotin-thiamine-responsive basal ganglia disease"
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 Genes
 biotin-responsive basal ganglia disease       2
 for disease ribbon | biotin-responsive basal ganglia disease       2
 model of | biotin-responsive basal ganglia disease       2
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  brain disease
   |__basal ganglia disease
       |__biotin-responsive basal ganglia disease  2 rec.
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Is a basal ganglia disease
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Synonyms
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Secondary IDs
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MESH:C537658
MIM:607483