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 )

Relationships
is a type of: Bartter disease