| Metadata | |
|---|---|
| ID | DOID:0110142 |
| Name | Bartter disease type 1 |
| Definition | A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. https://www.ncbi.nlm.nih.gov/pubmed/9355073 |
| Xrefs | |
| Synonyms |
BARTS1 [EXACT] Bartter syndrome type 1 antenatal [EXACT] Bartter syndrome type 1 [EXACT] hyperprostaglandin E syndrome 1 [EXACT] hypokalemic alkalosis with hypercalciuria 1 antenatal [EXACT] |
| Parent Relationships |
is_a Bartter disease |