FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bartter disease type 1 ID (Ontology) DOID:0110142 (Human Disease)
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.
Also Known As "BARTS1" ; "Bartter syndrome type 1" ; "Bartter syndrome type 1 antenatal" (for all, see Synonyms field below)
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 Genes
 Bartter disease type 1       2
 for disease ribbon | Bartter disease type 1       2
 model of | Bartter disease type 1       2
Spanning Tree (Parents/Children)
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monogenic disease________________
renal tubular transport disease__|
                                 Bartter disease
                                  |__Bartter disease type 1  2 rec.
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Synonyms
  • "BARTS1" EXACT OMO:0003012
    "Bartter syndrome type 1" EXACT
    "Bartter syndrome type 1 antenatal" EXACT
    "hyperprostaglandin E syndrome 1" EXACT
    "hypokalemic alkalosis with hypercalciuria 1 antenatal" EXACT
Secondary IDs
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ICD10CM:E26.8
MIM:601678