Bartter disease type 3

Term ID

DOID:0110144

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. https://www.ncbi.nlm.nih.gov/pubmed/9326936

References

• GARD:9659
• ICD10CM:E26.8
• OMIM:607364

Ontology

Human Disease   ( DOID:0110144 )