GM2 gangliosidosis, AB variant

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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: Tay-Sachs disease, variant AB (disorder), Tay-Sachs disease AB variant, Tay-Sachs disease, variant AB

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gm2a

MIM:

MIM:272750 - gm2-gangliosidosis, ab variant

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)