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Term:
Parent Terms Term With Siblings Child Terms
Tay-Sachs disease +     
GM2 Gangliosidosis, AB variant  
A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. (DO)
Gm2-Gangliosidosis, Adult Chronic Type  
Gm2-Gangliosidosis, Variant B1  
Hexosaminidase A Deficiency, Adult Type 
Tay-Sachs Disease, Juvenile  
Tay-Sachs Disease, Pseudo-AB Variant 
Tay-Sachs Disease, Variant B1  

Synonyms
Exact Synonyms: Activator Deficiency GM2 Gangliosidosis ;   Activator Deficient Tay Sachs Disease ;   Activator-Deficient Tay-Sachs Diseases ;   GM2 Activator Deficiencies ;   GM2 Activator Deficiency ;   GM2 Activator Deficiency Disease ;   GM2 Protein Activator Deficiency Disease ;   GM2 gangliosidoses, AB variant ;   Gangliosidosis GM2, Type AB ;   Hexosaminidase Activator Deficiencies ;   Hexosaminidase Activator Deficiency ;   Tay-Sachs disease AB variant ;   hexosaminidase activator protein deficiency disease
Primary IDs: MESH:D049290
Alternate IDs: OMIM:272750
Xrefs: NCI:C133084
Definition Sources: https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant "DO" "DO"

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