# Bartter disease type 4a

> Bartter disease that has material basis in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32

**Wikidata**: [Q27674850](https://www.wikidata.org/wiki/Q27674850)  
**Source**: https://4ort.xyz/entity/bartter-disease-type-4a


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/9b69acb1-93bc-4bc0-8a33-77bf64179c32--2018-07-12T20:52:43)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9b69acb1-93bc-4bc0-8a33-77bf64179c32-2018-07-12T205243.945Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000162399/MONDO_0011242)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)