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Metadata
DOID DOID:3321
Name GM2 gangliosidosis
Definition A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.
https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant
Synonyms

gangliosidosis GM2 [EXACT]

Xrefs

ICD10CM:E75.0

ICD10CM:E75.00

MESH:D020143

OMIM:309152

SNOMEDCT_US_2018_03_01:33316007

UMLS_CUI:C0268274

Relationships

is_a gangliosidosis

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