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Summary Literature (0)
DOID:0050659 - biotin-responsive basal ganglia disease

Disease Ontology 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.

Synonyms:

Xenbase Genes : slc19a3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011841 - biotin-responsive basal ganglia disease

MIM:
MIM:607483 - BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE; BTBGD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): basal ganglia disease (is_a)