# pyruvate carboxylase deficiency disease

> Human disease

**Wikidata**: [Q7263794](https://www.wikidata.org/wiki/Q7263794)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pyruvate_carboxylase_deficiency)  
**Source**: https://4ort.xyz/entity/pyruvate-carboxylase-deficiency-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000173599/EFO_1001142)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)