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Disease Ontology Browser
Bartter disease type 1 (DOID:0110142)
Alliance: disease page
Synonyms: BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 antenatal; hyperprostaglandin E syndrome 1; hypokalemic alkalosis with hypercalciuria 1 antenatal
Alt IDs: OMIM:601678, ICD10CM:E26.8
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory