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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:biotin-responsive basal ganglia disease
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Accession:DOID:0050659 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BBGD;   BBTGD;   BTBGD;   ENCEPHALOPATHY, THIAMINE-RESPONSIVE;   THMD2;   biotin ganglia disease, biotin-thiamine responsive;   biotin-thiamine-responsive basal ganglia disease;   thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)
 xref: MESH:C537658;   MIM:607483;   MONDO:0011841;   NCI:C212885



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Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            basal ganglia disease 1157
              biotin-responsive basal ganglia disease 1
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