Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00013 (Tree)
Name	Sialidosis type I
Aliases	Cherry-red spot myoclonus syndrome Normosomatic sialidosis
UMLS CUI	C2673311
OMIM DATA:　Gene	NEU1
OMIM DATA:　Gene Number	608272
OMIM DATA:　Phenotype Number	256550