Term Name: | Bartter disease type 1 |
---|---|
Synonyms: | BARTS1, Bartter syndrome type 1, Bartter syndrome type 1 antenatal, hyperprostaglandin E syndrome 1, hypokalemic alkalosis with hypercalciuria 1 antenatal |
Definition: | A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. |
Ontology: | Human Disease [DOID:0110142] ( DOID:0110142 ) |