GGDonto: Genetic Glyco-Diseases Ontology
 CON00062 :  'GM2-gangliosidosis, AB variant'  (Integration tree)  (Degradation tree)

Common disease names  GM2 activator deficiency
 Tay-Sachs disease, AB variant
Full list of disease names
Preferred Term  GM2-GANGLIOSIDOSIS, AB VARIANT
Synonyms (from OMIM and MeSH)  AB VARIANT GM2-GANGLIOSIDOSIS
 GM2 ACTIVATOR DEFICIENCY
 HEXOSAMINIDASE ACTIVATOR DEFICIENCY
 TAY-SACHS DISEASE, AB VARIANT
UMLS CUI  C0268275
UMLS SAB  MeSH
UMLS CODE  D049290
OMIM DATA
Gene  GM2A
Gene Number  613109
Phenotype Number  272750
GDGDB (56)


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