Term Name: | Bartter disease type 3 |
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Synonyms: | BARTS3, Bartter syndrome type 3, classic Bartter syndrome |
Definition: | A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. |
Ontology: | Human Disease [DOID:0110144] ( DOID:0110144 ) |