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Summary Literature (1)
DOID:0110142 - Bartter disease type 1


Disease Ontology 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.

Synonyms: BARTS1, Bartter syndrome type 1, Bartter syndrome type 1 antenatal, hyperprostaglandin E syndrome 1, hypokalemic alkalosis with hypercalciuria 1 antenatal

Xenbase Genes : slc12a1, kcnj1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011127 - Bartter disease type 1

OMIM:
OMIM:601678 - BARTTER SYNDROME, TYPE 1, ANTENATAL; BARTS1

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)