Disease association ontology term - MONDO:0009352 - classic homocystinuria
Term summary
- ID
- MONDO:0009352
- Name
- classic homocystinuria
- Ontology or CV name
- Disease association
- Definition
- Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
