# adult Refsum disease

> Human disease

**Wikidata**: [Q177809](https://www.wikidata.org/wiki/Q177809)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Refsum_disease)  
**Source**: https://4ort.xyz/entity/adult-refsum-disease


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/r.htm)
5. UniProt
6. Identification of PAHX, a Refsum disease gene
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107537/Orphanet_773)
8. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112357/Orphanet_773)
10. Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)