# Cornelia de Lange syndrome

> genetic disease

**Wikidata**: [Q1133289](https://www.wikidata.org/wiki/Q1133289)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cornelia_de_Lange_syndrome)  
**Source**: https://4ort.xyz/entity/cornelia-de-lange-syndrome


## References

1. [Source](https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
6. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
7. Cohesin Subunit RAD21: from Biology to Disease
8. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
9. RAD21 mutations cause a human cohesinopathy
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/30ad5023-6c68-42ab-b8ea-a601a134eaf6--2020-01-08T17:00:00)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_30ad5023-6c68-42ab-b8ea-a601a134eaf6-2020-01-08T170000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164754/MONDO_0016033)
13. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
14. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/9467eaad-a86a-4b24-8cd4-98ebb57121c1--2020-04-07T16:00:00)
15. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9467eaad-a86a-4b24-8cd4-98ebb57121c1-2020-04-07T160000.000Z)
16. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108055/MONDO_0016033)
17. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
18. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/a7d29159-4c90-488e-a4e1-b006d70ae762--2018-09-11T14:25:39)
19. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7d29159-4c90-488e-a4e1-b006d70ae762-2018-09-11T142539.606Z)
20. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147099/MONDO_0016033)
21. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
22. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/d4ecc430-6562-4d58-9118-c5253dc95ae9--2018-06-20T14:44:33)
23. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d4ecc430-6562-4d58-9118-c5253dc95ae9-2018-06-20T144433.262Z)
24. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164190/MONDO_0016033)
25. YSO-Wikidata mapping project
26. BabelNet
27. [Identifiers.org](https://registry.identifiers.org/registry/doid)
28. Great Norwegian Encyclopedia
29. National Library of Israel
30. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)