| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A lysosomal storage disease that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (Human Disease Ontology, DOID_3343) |
| Similar Terms | |
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4 genes involed in the disease Mucolipidosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
