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Summary Literature (0)
DOID:4795 - GM2 gangliosidosis, AB variant

Disease Ontology 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.

Synonyms: GM2 Activator Deficiency, Tay-Sachs disease AB variant, Tay-Sachs disease, variant AB, Tay-Sachs disease, variant AB (disorder)

Xenbase Genes : gm2a

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010099 - Tay-Sachs disease AB variant

MIM:
MIM:272750 - GM2-GANGLIOSIDOSIS, AB VARIANT

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): GM2 gangliosidosis (is_a)