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 4a ID (Ontology) DOID:0110145 (Human Disease)
Definition A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.
Also Known As "BARTS4A" ; "Bartter syndrome type 4a" ; "BSND" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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monogenic disease________________
renal tubular transport disease__|
                                 Bartter disease
                                  |__Bartter disease type 4a
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Synonyms
  • "BARTS4A" EXACT OMO:0003012
    "Bartter syndrome type 4a" EXACT
    "BSND" EXACT OMO:0003012
    "neonatal Bartter syndrome with sensorineural deafness" EXACT
Secondary IDs
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ICD10CM:E26.8
MIM:602522