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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 Slc19a3 solute carrier family 19 member 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:607483
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
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 More... NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            basal ganglia disease 1157
              biotin-responsive basal ganglia disease 1
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