FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term GM2 gangliosidosis ID (Ontology) DOID:3321 (Human Disease)
Definition A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
Also Known As "gangliosidosis GM2"
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DO.org
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autosomal recessive disease__
sphingolipidosis_____________|
                             gangliosidosis
                              |__GM2 gangliosidosis  3 rec.
                                  |__GM2 gangliosidosis, AB variant
                                  |__Sandhoff disease 3 rec.
                                  |__Tay-Sachs disease 3 rec.
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Synonyms
  • "gangliosidosis GM2" EXACT
Secondary IDs
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ICD10CM:E75.0
MESH:D020143
SNOMEDCT_US_2023_03_01:33316007
UMLS_CUI:C0268274