# brachydactyly type B2

> brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has material basis in mutations in the NOG gene on chromosome 17q22

**Wikidata**: [Q32145508](https://www.wikidata.org/wiki/Q32145508)  
**Source**: https://4ort.xyz/entity/brachydactyly-type-b2


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000183691/MONDO_0012658)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)