Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00014 (Tree)
Name Sialidosis type II
Aliases Dysmorphic sialidosis
Neuraminidase 1 deficiency
UMLS CUI C0268228
OMIM DATA: Gene NEU1
OMIM DATA: Gene Number 608272
OMIM DATA: Phenotype Number 256550