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Human Disease
Bartter disease type 1
- Term ID
- DOID:0110142
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/9355073
- References
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- ICD10CM:E26.8
- OMIM:601678
- Ontology
- Human Disease ( DOID:0110142 )
- is a type of
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