Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00056 (Tree)
Name Tay-Sachs disease, infantile form
Aliases Acute infantile
UMLS CUI C0039373
UMLS SAB MeSH
UMLS CODE D013661
OMIM DATA: Gene HEXA
OMIM DATA: Gene Number 606869
OMIM DATA: Phenotype Number 272800
References
  • Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.