Gitelman Syndrome
Disease ID: disease_node_11740
Connections displayed (default: 10).
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| Dbxref | GARD:8547, MESH:D053579, MIM:263800, NCI:C84730, SNOMEDCT_US_2023_03_01:3188003, UMLS_CUI:C0268450 |
|---|---|
| Subclassof | DOID_0050737, DOID_447 |
| Data Source | DOID, MESH |
| Synonyms | HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA |
| Mesh Id | D053579 |
| Mesh Label | Gitelman Syndrome |
| Mesh Subclassof | D015499 |
| Doid Label | Gitelman syndrome |
| Doid Description | A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_11740 |
| Doid Id | DOID_0050450 |
| Label | Gitelman Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Renal Tubular Transport, Inborn Errors(ID:disease_node_8336) (Disease)