Disease association ontology term - MONDO:0009353 - homocystinuria due to methylene tetrahydrofolate reductase deficiency
Term summary
- ID
- MONDO:0009353
- Name
- homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Ontology or CV name
- Disease association
- Definition
- Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.