| Metadata | |
|---|---|
| ID | DOID:0110143 |
| Name | Bartter disease type 2 |
| Definition | A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/9326936 |
| Xrefs | |
| Synonyms |
BARTS2 [EXACT] Bartter syndrome type 2 antenatal [EXACT] Bartter syndrome type 2 [EXACT] hyperprostaglandin E syndrome 2 [EXACT] hypokalemic alkalosis with hypercalciuria 2 antenatal [EXACT] |
| Parent Relationships |
is_a Bartter disease |