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