# occipital horn syndrome

> Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect

**Wikidata**: [Q3508729](https://www.wikidata.org/wiki/Q3508729)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Occipital_horn_syndrome)  
**Source**: https://4ort.xyz/entity/occipital-horn-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. UniProt
5. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000165240/MONDO_0010572)