Search Ontology:
Human Disease

GM2 gangliosidosis, AB variant

Term ID
DOID:4795
Synonyms
  • Tay-Sachs disease AB variant
  • Tay-Sachs disease, variant AB
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
References
Ontology
Human Disease   ( DOID:4795 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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