GGDonto: Genetic Glyco-Diseases Ontology
 CON00056 :  'Tay-Sachs disease, infantile form'  (Integration tree)  (Degradation tree)

Common disease names  Acute infantile
UMLS CUI  C0039373
UMLS SAB  MeSH
UMLS CODE  D013661
OMIM DATA
Gene  HEXA
Gene Number  606869
Phenotype Number  272800
References
Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.


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