FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term GM2 gangliosidosis, AB variant ID (Ontology) DOID:4795 (Human Disease)
Definition 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.
Also Known As "GM2 Activator Deficiency" ; "Tay-Sachs disease AB variant" ; "Tay-Sachs disease, variant AB"
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  gangliosidosis
   |__GM2 gangliosidosis
       |__GM2 gangliosidosis, AB variant
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Synonyms
  • "GM2 Activator Deficiency" EXACT
    "Tay-Sachs disease AB variant" EXACT
    "Tay-Sachs disease, variant AB" EXACT
Secondary IDs
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MESH:D049290
MIM:272750
NCI:C133084
SNOMEDCT_US_2023_03_01:71253000
UMLS_CUI:C0268275