Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00059 (Tree)
Name Sandhoff disease, infantile form
UMLS CUI C0751490
UMLS SAB MeSH
UMLS CODE D012497
OMIM DATA: Gene HEXB
OMIM DATA: Gene Number 606873
OMIM DATA: Phenotype Number 268800
References
  • Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.