# nephronophthisis 18

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22

**Wikidata**: [Q32147523](https://www.wikidata.org/wiki/Q32147523)  
**Source**: https://4ort.xyz/entity/nephronophthisis-18


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations of CEP83 cause infantile nephronophthisis and intellectual disability
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)