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Human Disease
Bartter disease type 2
- Term ID
- DOID:0110143
- Synonyms
-
- BARTS2
- Bartter syndrome type 2
- Bartter syndrome type 2 antenatal
- hyperprostaglandin E syndrome 2
- hypokalemic alkalosis with hypercalciuria 2 antenatal
- Definition
- A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/9326936
- References
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- ICD10CM:E26.8
- OMIM:241200
- Ontology
- Human Disease ( DOID:0110143 )
- is a type of
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