Bartter disease type 1

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:601678 - bartter syndrome, antenatal, type 1

MIM:601678 - bartter syndrome, antenatal, type 1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Bartter disease (is_a)