biotin-responsive basal ganglia disease

Go to external page http://purl.obolibrary.org/obo/DOID_0050659


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. [ url:https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease url:https://www.ncbi.nlm.nih.gov/books/NBK169615/ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007646 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:607483
  • MESH:C537658
comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050659