# nephronophthisis 12

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24

**Wikidata**: [Q32147433](https://www.wikidata.org/wiki/Q32147433)  
**Source**: https://4ort.xyz/entity/nephronophthisis-12


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_60f93fe0-145f-47a7-9ecf-613b1b1dfa7f-2021-11-10T170000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)