Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00042 (Tree)
Name Maroteaux-Lamy syndrome, severe form
UMLS CUI C0268216
UMLS SAB ICD-10-CM
UMLS CODE E76.29
OMIM DATA: Gene ARSB
OMIM DATA: Gene Number 611542
OMIM DATA: Phenotype Number 253200