Disease association ontology term - MONDO:0012222 - alpha-N-acetylgalactosaminidase deficiency type 2
Term summary
- ID
- MONDO:0012222
- Name
- alpha-N-acetylgalactosaminidase deficiency type 2
- Ontology or CV name
- Disease association
- Definition
- Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.