# brachydactyly type B1

> brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22

**Wikidata**: [Q32145418](https://www.wikidata.org/wiki/Q32145418)  
**Source**: https://4ort.xyz/entity/brachydactyly-type-b1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169071/MONDO_0007220)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)