Tay-Sachs disease AB variant

Definition

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

Also known as hexosaminidase activator deficiency — per MONDO

Also identified as

• DOID 4795 per MONDO
• MESH D049290 per MONDO
• NCIT C133084 per MONDO
• OMIM 272750 per MONDO
• Orphanet 309246 per MONDO
• SCTID 71253000 per MONDO
• UMLS C0268275 per MONDO