Disease association ontology term - MONDO:0017779 - alpha-N-acetylgalactosaminidase deficiency
Term summary
- ID
- MONDO:0017779
- Name
- alpha-N-acetylgalactosaminidase deficiency
- Ontology or CV name
- Disease association
- Definition
- Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
