Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00061 (Tree)
Name Sandhoff disease, adult form
UMLS CUI C0751489
UMLS SAB MeSH
UMLS CODE D012497
OMIM DATA: Gene HEXB
OMIM DATA: Gene Number 606873
OMIM DATA: Phenotype Number 268800