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Bartter disease type 1
Summary
- Synonym
-
- BARTS1
- Bartter syndrome type 1
- Bartter syndrome type 1 antenatal
- hyperprostaglandin E syndrome 1
- hypokalemic alkalosis with hypercalciuria 1 antenatal
- 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.
- Super Class
- Bartter disease
External Links
- Disease Ontology
- DOID:0110142
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
