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Metadata
DOID DOID:4795
Name GM2 gangliosidosis, AB variant
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.
https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant
Xrefs

MESH:D049290

NCI:C133084

OMIM:272750

SNOMEDCT_US_2018_03_01:71253000

UMLS_CUI:C0268275

Subsets

NCIthesaurus

Synonyms

Tay-Sachs disease AB variant [EXACT]

Tay-Sachs disease, variant AB [EXACT]

Relationships

is_a GM2 gangliosidosis

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