Disease association ontology term - MONDO:0009354 - methylcobalamin deficiency type cblE
Term summary
- ID
- MONDO:0009354
- Name
- methylcobalamin deficiency type cblE
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.
