# fumarase deficiency

> rare disease

**Wikidata**: [Q2823337](https://www.wikidata.org/wiki/Q2823337)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Fumarase_deficiency)  
**Source**: https://4ort.xyz/entity/fumarase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000091483/MONDO_0011730)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)