Term Name: | Bartter disease type 4a |
---|---|
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. |
Ontology: | Human Disease [DOID:0110145] ( DOID:0110145 ) |