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Metadata
DOID DOID:0110142
Name Bartter disease type 1
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
Synonyms

BARTS1 [EXACT]

Bartter syndrome type 1 [EXACT]

Bartter syndrome type 1 antenatal [EXACT]

hyperprostaglandin E syndrome 1 [EXACT]

hypokalemic alkalosis with hypercalciuria 1 antenatal [EXACT]

Xrefs

ICD10CM:E26.8

OMIM:601678

Relationships

is_a Bartter disease

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