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Disease Ontology Browser
GM2 gangliosidosis, AB variant (DOID:4795)
Alliance: disease page
Synonyms: Tay-Sachs disease AB variant; Tay-Sachs disease, variant AB
Alt IDs: OMIM:272750, MESH:D049290, NCI:C133084, UMLS_CUI:C0268275
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory