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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

MESH:C537658

MIM:607483

Parent Relationships

is_a basal ganglia disease

Subclass Logical Relationships

has symptom some confusion

has symptom some ataxia

has symptom some seizure

has symptom some dysphagia

disease has feature some dystonia

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