Bartter Disease Type 1
Disease ID: disease_node_19156
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| Dbxref | ICD10CM:E26.8, MIM:601678 |
|---|---|
| Subclassof | DOID_445 |
| Data Source | DOID |
| Synonyms | BARTS1, Bartter syndrome type 1, Bartter syndrome type 1 antenatal, hyperprostaglandin E syndrome 1, hypokalemic alkalosis with hypercalciuria 1 antenatal |
| Doid Label | Bartter disease type 1 |
| Doid Description | 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. |
| Disease Node Id | disease_node_19156 |
| Doid Id | DOID_0110142 |
| Label | Bartter Disease Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Bartter Syndrome(ID:disease_node_1490) (Disease)