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 | |
Subsets |
DO_rare_slim |
Synonyms |
BARTS3 [EXACT] Bartter syndrome type 3 [EXACT] classic Bartter syndrome [EXACT] |
Parent Relationships |
is_a Bartter disease |