Disease association ontology term - MONDO:0000152 - thiamine-responsive dysfunction syndrome
Term summary
- ID
- MONDO:0000152
- Name
- thiamine-responsive dysfunction syndrome
- Ontology or CV name
- Disease association
- Definition
- A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance.
