# Tay-Sachs disease AB variant

> extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency

**Wikidata**: [Q5513688](https://www.wikidata.org/wiki/Q5513688)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/GM2-gangliosidosis,_AB_variant)  
**Source**: https://4ort.xyz/entity/tay-sachs-disease-ab-variant


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196743/MONDO_0010099)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196743/Orphanet_309246)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)