Disease association ontology term - MONDO:0018868 - metachromatic leukodystrophy
Term summary
- ID
- MONDO:0018868
- Name
- metachromatic leukodystrophy
- Ontology or CV name
- Disease association
- Definition
- A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.
