Disease association ontology term - MONDO:0012221 - alpha-N-acetylgalactosaminidase deficiency type 1
Term summary
- ID
- MONDO:0012221
- Name
- alpha-N-acetylgalactosaminidase deficiency type 1
- Ontology or CV name
- Disease association
- Definition
- Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.
