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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Alopecia, Hypogonadism, Extrapyramidal Disorder  
basal ganglia calcification +   
basal ganglia cerebrovascular disease +   
biotin-responsive basal ganglia disease  
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)
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
chorea gravidarum 
Dystonia Musculorum Deformans +   
frontotemporal dementia +   
Gilles de la Tourette syndrome +   
Huntington's disease +   
Meige syndrome 
multiple system atrophy +   
Neuhauser Eichner Opitz Syndrome 
neuroleptic malignant syndrome 
pantothenate kinase-associated neurodegeneration  
Parkinsonism +   
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
progressive supranuclear palsy +   
Spastic Paraplegia with Associated Extrapyramidal Signs 
syndromic X-linked intellectual disability 5  
Waisman syndrome  
Wilson disease +   
Woodhouse-Sakati syndrome  

Synonyms
Exact Synonyms: 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)
Xrefs: MESH:C537658 ;   MIM:607483 ;   MONDO:0011841 ;   NCI:C212885
Definition Sources: https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK169615/ "DO" "DO"

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