GGDonto: Genetic Glyco-Diseases Ontology
 CON00052 :  'GM1-gangliosidosis, type II'  (Integration tree)  (Degradation tree)

Common disease names  Derry syndrome
 juvenile form
Full list of disease names
Preferred Term  GM1-GANGLIOSIDOSIS, TYPE II
Synonyms (from OMIM and MeSH)  GANGLIOSIDOSIS, GENERALIZED GM1, JUVENILE TYPE
 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2
 GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II
INCLUDED  GANGLIOSIDOSIS, GENERALIZED GM1, LATE-INFANTILE TYPE, INCLUDED
UMLS CUI  C0268272
UMLS SAB  MeSH
UMLS CODE  D016537
OMIM DATA
Gene  GLB1
Gene Number  611458
Phenotype Number  230600
References
Relations   Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
GDGDB (54)


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