# brachydactyly type A1

> brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes

**Wikidata**: [Q32145348](https://www.wikidata.org/wiki/Q32145348)  
**Source**: https://4ort.xyz/entity/brachydactyly-type-a1


## References

1. Disease Ontology
2. Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)