# proximal symphalangism

> autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness

**Wikidata**: [Q18553473](https://www.wikidata.org/wiki/Q18553473)  
**Source**: https://4ort.xyz/entity/proximal-symphalangism


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Human Phenotype Ontology release 2018-03-08
4. UniProt
5. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
6. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)