# abetalipoproteinemia

> rare genetic disease involving failure of synthesis or assembly of plasma lipoproteins that contain apo-protein B (chylomicrons, VLDL, and LDL); characterized by severe vitamin E deficiency, leading to serious neurological damage

**Wikidata**: [Q319812](https://www.wikidata.org/wiki/Q319812)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Abetalipoproteinemia)  
**Source**: https://4ort.xyz/entity/abetalipoproteinemia


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. UniProt
6. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000138823/MONDO_0008692)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Human Phenotype Ontology release 2018-03-08
10. GF WordNet