# brachydactyly type E2

> characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has material basis in heterozygous mutation in the PTHLH gene on chromosome 12p

**Wikidata**: [Q32145522](https://www.wikidata.org/wiki/Q32145522)  
**Source**: https://4ort.xyz/entity/brachydactyly-type-e2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Deletion and point mutations of PTHLH cause brachydactyly type E.
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)