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Metadata
ID DOID:0110144
Name Bartter disease type 3
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.
https://www.ncbi.nlm.nih.gov/pubmed/9326936
Xrefs

GARD:9659

ICD10CM:E26.8

MIM:607364

Subsets

DO_rare_slim

Synonyms

BARTS3 [EXACT]

Bartter syndrome type 3 [EXACT]

classic Bartter syndrome [EXACT]

Parent Relationships

is_a Bartter disease

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