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Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:601678 - bartter syndrome, antenatal, type 1

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)