# Smith-Lemli-Opitz syndrome

> an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase

**Wikidata**: [Q998273](https://www.wikidata.org/wiki/Q998273)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Smith–Lemli–Opitz_syndrome)  
**Source**: https://4ort.xyz/entity/smith-lemli-opitz-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. [Source](http://www.patient.co.uk/patientplus/s.htm)
5. UniProt
6. Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome
7. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/d5ed71c9-a76b-44c0-b5c0-44d604f2e0e9--2018-09-11T16:33:02)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d5ed71c9-a76b-44c0-b5c0-44d604f2e0e9-2018-09-11T163302.452Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172893/MONDO_0010035)
11. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
12. UMLS 2023
13. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)