# autosomal recessive nonsyndromic deafness 70

> autosomal recessive nonsyndromic deafness that has material basis in mutation in the PNPT1 gene on chromosome 2p16

**Wikidata**: [Q28024648](https://www.wikidata.org/wiki/Q28024648)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-nonsyndromic-deafness-70


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)