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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;   BTBGD;   ENCEPHALOPATHY, THIAMINE-RESPONSIVE;   THMD2;   biotin-thiamine-responsive basal ganglia disease;   thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)
 primary_id: MESH:C537658
 alt_id: OMIM:607483
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:607483
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia disease, biotin-responsive
ClinVar Annotator: match by term: ENCEPHALOPATHY, THIAMINE-RESPONSIVE
ClinVar Annotator: match by term: Biotin-thiamine-responsive basal ganglia disease
ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease
OMIM
ClinVar
CTD
PMID:15871139, PMID:16790503, PMID:19387023, PMID:20065143, PMID:22777947, PMID:23423671, PMID:23482991, PMID:23589815, PMID:23742248, PMID:24166474, PMID:24667528, PMID:24957181, PMID:25741868, PMID:26443248, PMID:26467025, PMID:26657515, PMID:26863430, PMID:26938784, PMID:27290639, PMID:27749535, PMID:27896110, PMID:28492532, PMID:28832562, PMID:29101630, PMID:29236641, PMID:29453417, PMID:30311386 NCBI chr 9:88,762,775...88,828,553
Ensembl chr 9:88,764,073...88,816,898
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            basal ganglia disease 570
              biotin-responsive basal ganglia disease 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.