Disease association ontology term - MONDO:0009737 - galactosialidosis
Term summary
- ID
- MONDO:0009737
- Name
- galactosialidosis
- Ontology or CV name
- Disease association
- Definition
- A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.
