Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI
CON00060
(
Tree
)
Name
Sandhoff disease, juvenile form
UMLS CUI
C0751491
UMLS SAB
MeSH
UMLS CODE
D012497
OMIM DATA: Gene
HEXB
OMIM DATA: Gene Number
606873
OMIM DATA: Phenotype Number
268800