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 2 ID (Ontology) DOID:0110143 (Human Disease)
Definition A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.
Also Known As "BARTS2" ; "Bartter syndrome type 2" ; "Bartter syndrome type 2 antenatal" (for all, see Synonyms field below)
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 Genes
 Bartter disease type 2       2
 for disease ribbon | Bartter disease type 2       2
 model of | Bartter disease type 2       2
Spanning Tree (Parents/Children)
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monogenic disease________________
renal tubular transport disease__|
                                 Bartter disease
                                  |__Bartter disease type 2  2 rec.
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Synonyms
  • "BARTS2" EXACT OMO:0003012
    "Bartter syndrome type 2" EXACT
    "Bartter syndrome type 2 antenatal" EXACT
    "hyperprostaglandin E syndrome 2" EXACT
    "hypokalemic alkalosis with hypercalciuria 2 antenatal" EXACT
Secondary IDs
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ICD10CM:E26.8
MIM:241200