# trichorhinophalangeal syndrome type I

> autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)

**Wikidata**: [Q18553302](https://www.wikidata.org/wiki/Q18553302)  
**Source**: https://4ort.xyz/entity/trichorhinophalangeal-syndrome-type-i


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104447/Orphanet_77258)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)