# Carpenter syndrome

> acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly

**Wikidata**: [Q2272470](https://www.wikidata.org/wiki/Q2272470)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Carpenter_syndrome)  
**Source**: https://4ort.xyz/entity/carpenter-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112210/MONDO_0019012)
6. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105429/MONDO_0019012)
8. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)