# crouzonodermoskeletal syndrome

> autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has material basis in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16

**Wikidata**: [Q5189052](https://www.wikidata.org/wiki/Q5189052)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Crouzonodermoskeletal_syndrome)  
**Source**: https://4ort.xyz/entity/crouzonodermoskeletal-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_98727c21-26dd-4e65-b75e-8ec82d95ba97-2021-11-18T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/MONDO_0012833)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/Orphanet_93262)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)