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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:
Echinobase Genes
:
LOC586864
| MIM:607483 - thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); thmd2 |
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)