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Summary Literature (1)
DOID:0110143 - Bartter disease type 2

Disease Ontology Definition:A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.

Synonyms: BARTS2, Bartter syndrome type 2, Bartter syndrome type 2 antenatal, hyperprostaglandin E syndrome 2, hypokalemic alkalosis with hypercalciuria 2 antenatal,

Xenbase Genes : kcnj1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009424 - Bartter disease type 2


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Bartter disease (is_a)