# Cantú syndrome

> osteochondrodysplasia characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly

**Wikidata**: [Q5034093](https://www.wikidata.org/wiki/Q5034093)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cantú_syndrome)  
**Source**: https://4ort.xyz/entity/cant-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Cantú syndrome is caused by mutations in ABCC9.
3. Disease Ontology
4. Cantú syndrome with coexisting familial pituitary adenoma
5. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition
6. Cantú syndrome resulting from activating mutation in the KCNJ8 gene
7. UniProt
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/10028)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000069431/MONDO_0009406)
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000069431/Orphanet_1517)
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)