# familial lipoprotein lipase deficiency

> familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides

**Wikidata**: [Q2349695](https://www.wikidata.org/wiki/Q2349695)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Lipoprotein_lipase_deficiency)  
**Source**: https://4ort.xyz/entity/familial-lipoprotein-lipase-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175445/MONDO_0009387)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)