GGDonto: Genetic Glyco-Diseases Ontology
 CON00059 :  'Sandhoff disease, infantile form'  (Integration tree)  (Degradation tree)

UMLS CUI  C0751490
UMLS SAB  MeSH
UMLS CODE  D012497
OMIM DATA
Gene  HEXB
Gene Number  606873
Phenotype Number  268800
References
Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.


Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)