# autosomal dominant deafness-onychodystrophy syndrome

> Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges

**Wikidata**: [Q55780470](https://www.wikidata.org/wiki/Q55780470)  
**Source**: https://4ort.xyz/entity/autosomal-dominant-deafness-onychodystrophy-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)