Term Name: | Bartter disease type 2 |
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Synonyms: | BARTS2, Bartter syndrome type 2, Bartter syndrome type 2 antenatal, hyperprostaglandin E syndrome 2, hypokalemic alkalosis with hypercalciuria 2 antenatal |
Definition: | A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. |
Ontology: | Human Disease [DOID:0110143] ( DOID:0110143 ) |