# oculocerebrorenal syndrome

> Human disease

**Wikidata**: [Q1200839](https://www.wikidata.org/wiki/Q1200839)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Oculocerebrorenal_syndrome)  
**Source**: https://4ort.xyz/entity/oculocerebrorenal-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Who Named It?
3. [Source](https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap)
4. Disease Ontology
5. Freebase Data Dumps. 2013
6. UniProt
7. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5140c756-fac0-435b-8f59-a5d4a0b0adb3--2020-07-10T16:00:00)
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5140c756-fac0-435b-8f59-a5d4a0b0adb3-2020-07-10T160000.000Z)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122126/MONDO_0010645)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)
12. National Library of Israel Names and Subjects Authority File