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