# 3-M syndrome

> autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities

**Wikidata**: [Q3335660](https://www.wikidata.org/wiki/Q3335660)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/3-M_syndrome)  
**Source**: https://4ort.xyz/entity/3-m-syndrome


## References

1. Disease Ontology
2. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000124006/Orphanet_2616)
4. Identification of mutations in CUL7 in 3-M syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000044090/Orphanet_2616)
6. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169515/Orphanet_2616)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Quora