# camptodactyly-tall stature-scoliosis-hearing loss syndrome

> autosomal genetic disease characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has material basis in partial loss of function in the FGFR3 gene on chromosome 4p16

**Wikidata**: [Q50349826](https://www.wikidata.org/wiki/Q50349826)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Camptodactyly,_tall_stature,_and_hearing_loss_syndrome)  
**Source**: https://4ort.xyz/entity/camptodactyly-tall-stature-scoliosis-hearing-loss-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/MONDO_0012504)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068078/Orphanet_85164)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)