Biotin-responsive Basal Ganglia Disease
| Disease Aliases (14) | Basal ganglia disease, biotin-responsive Bbgd Btbgd Biotin-responsive basal ganglia disease Biotin-thiamine-responsive basal ganglia disease Encephalopathy, thiamine-responsive Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) Thmd2 Thiamine metabolism dysfunction syndrome 2 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) Thiamine metabolism dysfunction syndrome type 2 Thiamine transporter-2 deficiency Thiamine-responsive encephalopathy Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); thmd2 |
Associated Genes (1) NCBI-RefSeq: SLC19A3 (Solute carrier family 19 member 3) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Biotin-responsive basal ganglia disease | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |