# Cohen syndrome

> a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity

**Wikidata**: [Q1107087](https://www.wikidata.org/wiki/Q1107087)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cohen_syndrome)  
**Source**: https://4ort.xyz/entity/cohen-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Freebase Data Dumps. 2013
3. UniProt
4. Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/ccfc68bc-9f00-4565-b2c7-70ad9f8e2002--2018-11-13T15:34:57)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccfc68bc-9f00-4565-b2c7-70ad9f8e2002-2018-11-13T153457.342Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000132549/MONDO_0008999)
8. YSO-Wikidata mapping project
9. Quora