# thanatophoric dysplasia

> osteochondrodysplasia that results in short arms and legs with excess folds of skin

**Wikidata**: [Q1787020](https://www.wikidata.org/wiki/Q1787020)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Thanatophoric_dysplasia)  
**Source**: https://4ort.xyz/entity/thanatophoric-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. [Source](https://ddrare.nibiohn.go.jp/)
3. Disease Ontology
4. Freebase Data Dumps. 2013
5. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
6. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)