Bartter disease type 4a

Term ID

DOID:0110145

Synonyms

• BARTS4A
• Bartter syndrome type 4a
• BSND
• neonatal Bartter syndrome with sensorineural deafness

Definition

A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. https://www.ncbi.nlm.nih.gov/pubmed/11687798

References

• ICD10CM:E26.8
• OMIM:602522

Ontology

Human Disease   ( DOID:0110145 )