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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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biotin-responsive basal ganglia disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100992218 thiamine transporter 2 ISO ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease ClinVar NCBI chr2B:114,849,464...114,882,485
Ensembl chr2B:233,661,903...233,683,556 		JBrowse link
G SLC19A3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy OMIM
ClinVar		 PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 More... NCBI chr2B:114,925,990...114,957,841
Ensembl chr2B:233,736,050...233,764,514 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15833
    disease of anatomical entity 15489
      nervous system disease 13585
        central nervous system disease 12148
          brain disease 11411
            basal ganglia disease 1121
              biotin-responsive basal ganglia disease 2
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